Gene/Test | Disorder | OMIM No. | Panel |
AARS | CMT type 2N | ||
AARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ABAT | GABA-transaminase deficiency | ||
ABCA1 | HDL deficiency, Tangier Disease | FH | |
ABCA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ABCG5 | Sitosterolemia 2 | FH | |
ABCG8 | Sitosterolemia 1 | FH | |
ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | ||
ABHD12 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ABHD5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACAD9 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACADL | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency | single | |
ACADM | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACADVL | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACTA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACTA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACTB | Baraitser-Winter syndrome 1 | ||
ACTG1 | Baraitser-Winter syndrome 2 | ||
ACTN2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACTN2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACVR1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ACVR1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ADSL | Adenylosuccinase deficiency | ||
ADSS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AFG2A | Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities | ||
AGA | Aspartylglucosaminuria | ||
AGL | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AGRN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AGRN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AGTPBP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AHNAK2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AIFM1 (VARIANT1) | Cowchock Syndrome (CMTX4) | ||
AIFM1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AIP(incl. 5'UTR) | Pituitary adenoma 1, multiple types(CMTX4) | ||
AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | ||
ALDH7A1 | Epilepsy, pyridoxine-dependent | ||
ALDOA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ALDOA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ALG13 | Developmental and epileptic encephalopathy 36 | ||
ALG14 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ALG2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AMPD1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AMPD1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AMT | Glycine encephalopathy | ||
ANGPTL3 | Hypobetalipoproteinemia | FH | |
ANO5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
AP3B2 | Developmental and epileptic encephalopathy 48 | ||
APC(incl. 5’UTR) | Adenomatous polyposis coli | ||
APOA1 | Hypoalphalipoproteinemia | FH | |
APOA5 | Hyperchylomicronemia | FH | |
APOB | Hypobetalipoproteinemia | FH | |
APOC2 | Hyperlipoproteinemia | FH | |
APOC3 | Apoliprotein C-III deficiency | FH | |
APOE | Hyperlipoproteinemia type III | FH | |
APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | ||
APTX | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ARFGEF2 | Periventricular heterotopia with microcephaly | ||
ARG1 | Arginase deficiency | ||
ARHGEF10 | Slowed nerve conduction velocity, AD | ||
ARHGEF10 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ARHGEF28 | ARHGEF28 associated syndrome | ||
ARHGEF9 | Developmental and epileptic encephalopathy 8 | ||
ARSA | Metachromatic leukodystrophy | ||
ARSA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ARSB | Mucopolysaccharidosis VI | ||
ARV1 | Developmental and epileptic encephalopathy 38 | ||
ARX | Epileptic encephalopathy, early infantile, 1 | ||
ASAH1 | Farber lipogranulomatosis | ||
ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy | ||
ASAH1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ASCC1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ASCC3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ASL | Argininosuccinic aciduria | ||
ASNS | Asparagine synthetase deficiency | ||
ASS1 | Classic citrullinemia | ||
ATL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATL3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATM | Ataxia-telangiectasia | ||
ATM | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATP1A1 | Charcot-Marie-Tooth disease, axonal, type 2DD | ||
ATP1A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATP1A2 | Developmental and epileptic encephalopathy 98 | ||
ATP1A2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATP1A3 | Alternating hemiplegia of childhood 2 | ||
ATP2A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATP2A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATP5F1D | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA | ||
ATP7A | Spinal muscular atrophy, distal, X-linked 3 | ||
ATP7A | Menkes disease | ||
ATP7A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ATRX | Alpha-thalassemia/mental retardation syndrome | ||
ATRX | Oligodontia-colorectal cancer syndrome | ||
B/T Cell Lymphoma | Lymphoma, non-Hodgkin, somatic, lymphoproliferative disorders | ||
B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | ||
B3GALNT2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
B4GALNT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
B4GAT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
BAG3 | Myopathy, myofibrillar, 6 | ||
BAG3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
BAP1 | Tumor predisposition syndrome | ||
BARD1 | Breast cancer, susceptibility | ||
BCKDHB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
BCR-ABL | Leukemia, chronic myeloid, somatic | ||
BICD2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
BIN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
BMPR1A (incl. 5'UTR) | Juvenile polyposis syndrome, infantile form | ||
BRAF(FFPE) | Adenocarcinoma of lung, somatic, Melanoma, malignant, somatic | ||
BRCA1 (incl. 5'UTR) | Breast-ovarian cancer, familial | ||
BRCA2 (incl. 5'UTR) | Breast-ovarian cancer familial | ||
BRIP1 | Breast cancer, early-onset | ||
BSCL2 | Neuropathy, distal hereditary motor, type VC | ||
BSCL2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
BVES | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
C1QBP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
C3 | {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, / C3 deficiency | ||
C9 | C9 deficiency | ||
CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency | ||
CACNA1A | Developemental and epileptic encephalopathy 42 | ||
CACNA1A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CACNA1E | Developmental and epileptic encephalopathy 69 | ||
CACNA1H | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CACNA1S | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CACNA1S | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CAD | Developmental and epileptic encephalopathy 50 | ||
CADM3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
Cancer Hotspot(FFPE) | Tumour profiling using 2800 COSMIC variants | | |
CAPN3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CAPN3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CASQ1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CASQ1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CAV3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CAVIN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CCDC78 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CCT5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CD46 | {Hemolytic uremic syndrome, atypical, susceptibility to, 2} | AHUS Atypical Hemolytic Uremic Syndrome Panel | |
CD59 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CD59 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CDC73 | Hyperparathyroidism, familial primary | ||
CDH1 | Endometrial carcinoma, somatic | ||
CDK4 | Melanoma, cutaneous malignant | ||
CDKL5 | Epileptic encephalopathy, early infantile, 2 | ||
CDKN1B | Multiple endocrine neoplasia, type IV | ||
CDKN2A | Melanoma and neural system tumor syndrome | ||
CETP | Hyperalphalipoproteinemia | FH | |
CFAP276 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CFB | {Hemolytic uremic syndrome, atypical, susceptibility to, 4} | ||
CFH | {Hemolytic uremic syndrome, atypical, susceptibility to, 1} | ||
CFI | {Hemolytic uremic syndrome, atypical, susceptibility to, 3} | ||
CFL2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CFTR | Cystic fibrosis | ||
CHAT | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHAT | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHCHD10 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHD2 | Epileptic encephalopathy, childhood-onset | ||
CHD8 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHEK2 | Li-Fraumeni syndrome | ||
CHKB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNA4 | Epilepsy, nocturnal frontal lobe, 1 | ||
CHRNB1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNB1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNB2 | Epilepsy, nocturnal frontal lobe, 3 | ||
CHRND | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRND | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNE | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNE | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNG | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CHRNG | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CLCN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CLCN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CLCN4 | Raynaud-Claes syndrome | ||
CLN3 | Ceroid lipofuscinosis, neuronal, 3 | ||
CLN3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CLN5 | Ceroid lipofuscinosis, neuronal, 5 | ||
CLN6 | Ceroid lipofuscinosis, neuronal, 6 | ||
CLN8 | Ceroid lipofuscinosis, neuronal, 8 | ||
CLTCL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CNTN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CNTNAP1 | Hypomyelinating neuropathy, congenital, 3 | ||
CNTNAP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome | ||
COA7 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL12A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL12A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL13A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL13A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL6A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL6A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL6A2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL6A2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL6A3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COL6A3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COLQ | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COQ4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COQ8A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
COX6A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CPOX | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CPS1 | Carbamoyl phosphate synthetase I deficiency | ||
CPT1A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CPT2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CRPPA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CRYAB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CRYAB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | ||
CTDP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
CTNNA1 | Hereditary diffuse gastric cancer | ||
CTNS | Cystinosis | ||
CTSA | Galactosialidosis | ||
CTSD | Ceroid lipofuscinosis, neuronal, 10 | ||
CTSD | Ceroid lipofuscinosis, neuronal, 10 | ||
CTSF | Ceroid lipofuscinosis, neuronal, 13 (Kufs type) | ||
CTSK | Pycnodysostosis | ||
CYP27A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DAG1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DAG1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DARS2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DCAF8 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DCTN1 | Neuronopathy, distal hereditary motor, type VIIB | ||
DCTN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DCTN2 | DCTN2 associated syndrome | ||
DCX | Lissencephaly, X-linked | ||
DEGS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DEPDC5 | Epilepsy, familial focal, with variable foci 1 | ||
DES | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DES | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DGAT2 | DGAT2 associated syndrome | ||
DGAT2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DGKE | {Hemolytic uremic syndrome, atypical, susceptibility to, 7} | ||
DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | ||
DGUOK | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DHTKD1 | Charcot-Marie-Tooth disease, axonal, type 2Q | ||
DHTKD1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DICER1 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | ||
DMD | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DNA2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | ||
DNAJB2 | Spinal muscular atrophy, distal, autosomal recessive, 5 | ||
DNAJB2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DNAJB2(VARIANT1) | CMT2T | ||
DNAJB4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DNAJB6 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DNAJC5 | Ceroid lipofuscinosis, neuronal, 4, Parry type | ||
DNAJC5 | Ceroid lipofuscinosis, neurona | ||
DNM1 | Epileptic encephalopathy, early infantile, 31 | ||
DNM2 | Charcot-Marie-Tooth disease, dominant intermediate B | ||
DNM2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DNMT1 | Neuropathy, hereditary sensory, type IE | ||
DNMT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DNMT3B | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DOCK7 | Epileptic encephalopathy, early infantile, 23 | ||
DOK7 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DOLK | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DPAGT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DPM1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DPM2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DPM3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DPYD Genotyping | Fluoropyrimidine toxicity | ||
DRP2 | DRP2 associated syndrome | ||
DST | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DST | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DUX4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DYNC1H1 | CMT2O | ||
DYNC1H1 | Mental retardation, autosomal dominant 13 | ||
DYNC1H1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
DYRK1A | Mental retardation, autosomal dominant 7 | ||
DYSF | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ECEL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
EEF1A2 | Developmental and epileptic encephalopathy 33 | ||
EGFR | Nonsmall cell lung cancer, susceptibility to | ||
EGFR(FFPE) | Adenocarcinoma of lung, response to tyrosine kinase inhibitor in | ||
EGLN1 | Erythrocytosis, familial, 3 | ||
EGR2 | Charcot-Marie-Tooth disease, type 1D | ||
EGR2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
EHMT1 | Kleefstra syndrome 1 | ||
ELP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
EMD | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ENO3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ENO3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 | ||
EPG5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
EPM2A | Epilepsy, progressive myoclonic 2A (Lafora) | ||
ERCC6 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ERCC8 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ETFA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ETFB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ETFB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ETFDH | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
EXOSC3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
EXT1 | Exostoses, multiple, type 1 | ||
EXT2 | Exostoses, multiple, type 2 | ||
F12 | Angioedema, hereditary, type III / Factor XII deficiency | ||
FAH | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FBLN5 | Neuropathy, hereditary, with or without age-related macular degeneration | ||
FBLN5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | ||
FBXO38 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FDX2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FGD4 | CMT4H | ||
FGD4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FGF12 | Developmental and epileptic encephalopathy 47 | ||
FH | Leiomyomatosis and renal cell cancer | ||
FHL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FIG4 | Charcot-Marie-Tooth disease, type 4J | ||
FIG4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FKBP14 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FKRP | Candidate gene for atypical hemolytic uremic syndrome | ||
FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | ||
FKRP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FKTN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | ||
FKTN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FLAD1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FLCN | Birt-Hogg-Dube syndrome , Colorectal cancer, somatic, Renal carcinoma, chromophobe, somatic | ||
FLNA | Heterotopia, periventricular, 1 | ||
FLNC | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FLVCR1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FOLR1 | Neurodegeneration due to cerebral folate transport deficiency | ||
FOXG1 | Rett syndrome, congenital variant | ||
FRRS1L | Developmental and epileptic encephalopathy 37 | ||
FUCA1 | Fucosidosis | ||
FXN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
FXR1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GAA | Glycogen storage disease II | ||
GAA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GABBR2 | Developmental and epileptic encephalopathy 59 | ||
GABRA1 | Developmental and epileptic encephalopathy 19 | ||
GABRB2 | Developmental and epileptic encephalopathy 92 | ||
GABRB3 | Developmental and epileptic encephalopathy 43 | ||
GABRG2 | Developmental and epileptic encephalopathy 74 | ||
GALC | Krabbe disease | ||
GALC | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GALNS | Mucopolysaccharidosis IVA | ||
GALNT12 | Colorectal cancer, susceptibility to, 1 | ||
GAMT | Cerebral creatine deficiency syndrome 2 | ||
GAN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GARS | Charcot-Marie-Tooth disease, type 2D | ||
GARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GATM | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GBA | Gaucher disease, | ||
GBA2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GBE1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GBF1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GDAP1 | Charcot-Marie-Tooth disease, axonal, type 2K, 4A | ||
GDAP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | ||
GFPT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GFPT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GGPS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GIPC1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant | ||
GJB1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GJB2 | Deafness, autosomal dominant 3A | ||
GJB3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GJB6 | Deafness, autosomal dominant 3B | ||
GJC2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GLA | Fabry disease | ||
GLA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GLB1 | Mucopolysaccharidosis IVB | ||
GLB1 | GM1-gangliosidosis, type I | ||
GLDC | Glycine encephalopathy | ||
GLUD1 | Hyperinsulinism - hyperammonemia syndrome | ||
GLUL | Glutamine deficiency, congenital | ||
GM2A | GM2-gangliosidosis, | ||
GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 | ||
GMPPB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GNAO1 | Developmental and epileptic encephalopathy 17 | ||
GNB4 | Charcot-Marie-Tooth disease, dominant intermediate F | ||
GNB4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GNE | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GNPTAB | Mucolipidosis II/I-Cell Disease | ||
GNPTG | Mucolipidosis III | ||
GNS | Mucopolysaccharidosis IIID | ||
GOLGA2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GOSR2 | Epilepsy, progressive myoclonic 6 | ||
GOSR2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GPD1 | Hypertriglyceridemia, transient infantile | FH | |
GPIHBP1 | Hyperlipoproteinemia | FH | |
GPR56 | Polymicrogyria, bilateral frontoparietal | ||
GPSM2 | Chudley-McCullough syndrome | ||
GREM1 (incl. 5'UTR) | Polyposis syndrome, mixed hereditary 1 (HMPS1) | ||
GRIN1 | Developmental and epileptic encephalopathy 101 | ||
GRIN2A | Epilepsy, focal, with speech disorder and with or without mental retardation | ||
GRIN2B | Epileptic encephalopathy, early infantile, 27 | ||
GRIN2D | Developmental and epileptic encephalopathy 46 | ||
GRN | Ceroid lipofuscinosis, neuronal, 11 | ||
GUSB | Mucopolysaccharidosis VII | ||
GYG1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GYS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
GYS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HACD1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HADHA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HADHB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HARS | Charcot-Marie-Tooth disease, axonal, type 2W | ||
HARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HCN1 | Epileptic encephalopathy, early infantile, 24 | ||
HEXA | GM2-gangliosidosis, | ||
HEXB | Sandhoff disease, | ||
HGSNAT | Mucopolysaccharidosis IIIC | ||
HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive | ||
HINT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HK1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HK1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HMBS | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HNRNPA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HNRNPA2B1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HNRNPDL | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HNRNPU | Developmental and epileptic encephalopathy 54 | ||
HOXB13 | Prostate Cancer | ||
HOXD10 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HRAS | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HSPB1 | Charcot-Marie-Tooth disease, axonal, type 2F | ||
HSPB1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HSPB3 | Neuronopathy, distal hereditary motor, type IIC | ||
HSPB3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HSPB8 | Charcot-Marie-Tooth disease, axonal, type 2L | ||
HSPB8 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
HYAL1 | Mucopolysaccharidosis IX | ||
HYCC1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
IARS2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
IDS | Mucopolysaccharidosis II | ||
IDUA | Mucopolysaccharidosis I | ||
IGHMBP2 | CMT2S Dhmn6 | ||
IGHMBP2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
INF2 | Glomerulosclerosis, focal segmental, 5/Charcot-Marie-Tooth disease, dominant intermediate E | ||
INF2 | Charcot-Marie-Tooth disease, dominant intermediate E | ||
INF2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
INPP5K | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ISCU | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ITGA7 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ITPA | Developmental and epileptic encephalopathy 35 | ||
ITPR3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
JAG1 | Alagille syndrome 1 | ||
JAG1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
JAG2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
JAK2 | Polycythemia vera, somatic | ||
KANSL1 | Koolen-De Vries syndrome | ||
KARS | Charcot-Marie-Tooth disease, recessive intermediate, B | ||
KARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KATNB1 | Lissencephaly 6, with microcephaly | ||
KBTBD13 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KCNA1 | Episodic ataxia/myokymia syndrome | ||
KCNA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KCNA2 | Developmental and epileptic encephalopathy 32 | ||
KCNA2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KCNB1 | Developmental and epileptic encephalopathy 26 | ||
KCNC1 | Epilepsy, progressive myoclonic 7 | ||
KCNC1 | Epilepsy, progressive myoclonic 7 | ||
KCNE3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KCNH5 | Develpmental and epileptic encephalopathy 112 | ||
KCNJ10 | SESAME syndrome | ||
KCNJ18 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KCNJ2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KCNMA1 | Cerebellar atrophy, developmental delay, and seizures | ||
KCNQ2 | Epileptic encephalopathy, early infantile, 7 | ||
KCNQ3 | Seizures, benign neonatal, type 2 | ||
KCNT1 | Epileptic encephalopathy, early infantile, 14 | ||
KCTD7 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | ||
KCTD7 | Epilepsy, progressive myoclonic 3 | ||
KDM5C | Mental retardation, X-linked, syndromic, Claes-Jensen type | ||
KIAA2022 (NEXMIF) | Intellectual development disorder | ||
KIF1A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KIF1B | CMT2A1 | ||
KIF1B | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KIF2A | Cortical dysplasia, complex, with other brain malformations 3 | ||
KIF5A | Spastic paraplegia 10, autosomal dominant | ||
KIF5A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KIT | Gastrointestinal stromal tumor, familial | ||
KLHL40 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KLHL41 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
KRAS/NRAS(FFPE) | Lung cancer, somatic | ||
KY | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LAMA2 | Muscular dystrophy, congenital, merosin deficient or partially deficient | ||
LAMA2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LAMA5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LAMB2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LAMP2 | Danon disease | ||
LAMP2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | ||
LARGE1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LCAT | Fish-eye disease; Norum disease | FH | |
LDB3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LDHA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LDLR | Hypercholesterolemia | FH | |
LDLRAP1 | Hypercholesterolemia | FH | |
LGI1 | Epilepsy, familial temporal lobe, 1 | ||
LIMS2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LIPA | Cholesteryl ester storage disease, Wolman disease | ||
LIPC | Hepatic lipase deficiency | FH | |
LITAF | Charcot-Marie-Tooth disease, type 1C | ||
LITAF | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LMF1 | Lipase deficiency, combined | FH | |
LMNA | Charcot-Marie-Tooth disease, type 2B1 | ||
LMNA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LMOD3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LPIN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LPL | Lipoprotein lipase deficiency, Combined hyperlipidemia | FH | |
LRIF1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LRP12 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LRP4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LRSAM1 | CMT2P | ||
LRSAM1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LYST | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
LZTR1 | Schwannomatosis-2, susceptibility to | ||
MAN2B1 | Mannosidosis, alpha-, types I and II | ||
MANBA | Mannosidosis, beta | ||
MAP3K20 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MARS | CMT2U | ||
MARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MAX | Pheochromocytoma, susceptibility to | ||
MB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MBD5 | Mental retardation, autosomal dominant 1 | ||
MCM3AP | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | ||
MCM3AP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MCOLN1 | Mucolipidosis IV | ||
MCOLN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MDH2 | Developmental and epileptic encephalopathy 51 | ||
MECP2 | Rett syndrome | ||
MECP2 | Rett syndrome/Encephalopathy, neonatal severe/Mental retardation, X-linked, syndromic 13/Mental retardation, X-linked syndromic, Lubs type | ||
MED25 | CMT2B2 | ||
MEF2C | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | ||
MEGF10 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MEN1 | Multiple endocrine neoplasia 1 | ||
MEN1 | Adrenal adenoma, somatic, Angiofibroma, somatic, Carcinoid tumor of lung, Lipoma, somatic, Multiple endocrine neoplasia 1, Parathyroid adenoma, somatic | ||
MET | Renal cell carcinoma, papillary, 1, familial and somatic | ||
MFN2 | Charcot-Marie-Tooth disease, type 2A2 Hereditary motor and sensory neuropathy VIA | ||
MFN2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MFSD8 | Ceroid lipofuscinosis, neuronal, 7 | ||
MFSD8 | Ceroid lipofuscinosis, neuronal, 7 | ||
MGME1 | Mitochondrial DNA depletion syndrome 11 | ||
MGME1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MICU1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MITF | Melanoma, cutaneous malignant, susceptibility to, 8 | ||
MLH1 (incl. 5'UTR) | Colorectal cancer, hereditary nonpolyposis, type 2 | ||
MLH3 | Colorectal cancer, hereditary nonpolyposis, type 7 | ||
MLIP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | ||
MMACHC | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MMADHC | Candidate gene for atypical hemolytic uremic syndrome | ||
MME | Charcot-Marie-Tooth disease, axonal, type 2T | ||
MME | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MOCS1 | Molybdenum cofactor deficiency A | ||
MORC2 | Charcot-Marie-Tooth disease, axonal, type 2Z | ||
MORC2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MPDU1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MPV17 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | ||
MPV17 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MPZ | Charcot-Marie-Tooth disease, dominant intermediate D, 1B, 2I, 2J | ||
MPZ | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MSH2 (incl. 5'UTR) | Colorectal cancer, hereditary nonpolyposis, type 1 | ||
MSH3 | Endometrial carcinoma, somatic, Familial adenomatous polyposis 4 | ||
MSH6 | Colorectal cancer, hereditary nonpolyposis, type 5 | ||
MSTN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MSTO1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-ATP6 | Leigh syndrome, NARP, Lactic Acidosis/ Seizures | ||
MT-ATP6 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-ATP8 | Infantile hypertrophic cardiomyopathy, | ||
MT-CO1 | EXIT/Myoglobinuria, DEAF, Therapy-resistant Epilepsy | ||
MT-CO1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-CO2 | Myopathy, EXIT, Sensory Neural Hearing Loss, Encephalomyopathy, Lactic Acidosis | ||
MT-CO2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-CO3 | MELAS, Myopathy & Myoglobinuria, Leigh syndrome-like, PEM, | ||
MT-CYB | EXIT, MELAS, Hypertrophic Cardiomyopathy | ||
MTM1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MTMR2 | CMT4B1 | ||
MTMR2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-ND1 | Alzheimer & Parkinson Disease, MELAS, LHON | ||
MT-ND2 | Alzheimer Disease | ||
MT-ND3 | Leigh syndrome / Dystonia / Stroke | ||
MT-ND4 | Leigh syndrome | ||
MT-ND4L | MT-ND4L | ||
MT-ND5 | MELAS, Leigh syndrome | ||
MT-ND6 | LHON, Leigh syndrome | ||
MTRFR | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-RNR1 | DEAF, Deafness, Diabetes Mellitus | ||
MT-RNR1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-RNR2 | DEAF, Rett Syndrome, MELAS, Alzheimer & Parkinson Disease | ||
MT-TA | Myopathy, Progressive external ophthalmoplegia | ||
MT-TC | Progressive Dystonia, Encephalopathy, Deafness | ||
MT-TD | Myoclonus and Psychomotor Regression, Mitochondrial Myopathy | ||
MT-TE | Mitochondrial Encephalomyopathy, Mitochondrial Myopathy, PEM, Leukoencephalopathy, Retinopathy | ||
MT-TF | Myoglobinuria, Tubulo-interstitial nephritis, Deafness, MERF, MELAS, Mitochondrial Myopathy | ||
MT-TG | PEM, Gastrointestinal Reflux and Sudden Infant Death, MHCH, CIPO | ||
MT-TH | Deafness, MICM, MERRF-MELAS/ cerebral edema | ||
MT-TI | CPEO, PEM, Maternally Inherited Cardiomyopathy | ||
MT-TK | MERRF, Mitochondrial cytopathy, MNGIE | ||
MT-TL1 | MERRF/Kearns Sayre syndrome overlap, PEM | ||
MT-TL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-TL2 | Mitochondrial Myopathy, CPEO, Dilated Cardiomyopathy, Kearns Sayre syndrome | ||
MT-TM | Mitochondrial Myopathy | ||
MT-TN | CPEO, Myopathy, Encephalomyopathy | ||
MTTP | Abetalipoproteinemia | FH | |
MT-TP | MERRF-like disease, Ataxia+RP+deafness, Mitochondrial cytopathy | ||
MTTP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MT-TQ | MELAS/ encephalopathy, Myopathy | ||
MT-TR | Mitochondrial Myopathy, Encephalomyopathy | ||
MT-TS1 | Deafness; Sensory Neural Hearing Loss, Mitochondrial Myopathy, Encephalomyopathy | ||
MT-TS2 | CIPO, Diabetes Mellitus & Deafness, Myopathy / Encephalopathy | ||
MT-TT | Mitochondrial Myopathy, Infantile Mitochondrial Myopathy | ||
MT-TV | Leigh syndrome, MELAS, Encephalomyopathy, ataxia, myoclonus, and deafness | ||
MT-TW | Encephalomyopathy, Mitochondrial Myopathy | ||
MT-TW | Leigh syndrome, Encephalomyopathy, Myopathy | ||
MT-TY | Mitochondrial Myopathy, Exercise Intolerance, Mitochondrial Myopathy Cytopathy | ||
MUSK | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MUTYH | Adenomas, multiple colorectal | ||
MYBPC1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYBPC3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYH2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYH3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYH7 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYL2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYMK | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYO18B | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYO9A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYO9B | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYOT | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
MYPN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NAGA | Schindler disease | ||
NAGA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NAGLU | Charcot-Marie-Tooth disease, axonal, type 2V | ||
NAGLU | Mucopolysaccharidosis IIIB | ||
NAGLU | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NBN | Nijmegen breakage syndrome | ||
ND1,4,6 | Leber Hereditary Optic Neuropathy | ||
NDE1 | Lissencephaly 4 (with microcephaly) | ||
NDRG1 | CMT4D | ||
NDRG1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NEB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NEFH | Charcot-Marie-Tooth disease, axonal, type 2CC | ||
NEFH | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NEFL | Charcot-Marie-Tooth disease, type 1F, 2E | ||
NEFL | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NEU1 | Sialidosis | ||
NEU1 | Sialidosis, type I/ type II | ||
NF1 | Neurofibromatosis, type 1 | ||
NF2 | Neurofibromatosis, type 2 | ||
NGF | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NGLY1 | Congenital disorder of deglycosylation 1 | ||
NHERF1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NHLRC1 | Epilepsy, progressive myoclonic 2B (Lafora) | ||
NMNAT2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NOTCH2NLC | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
NOTCH3 | CADASIL | ||
NPC1 | Niemann-Pick disease 1 | ||
NPC2 | Niemann-Pick disease 2 | ||
NPRL2 | Epilepsy, familial focal, with variable foci 2 | ||
NPRL3 | Epilepsy, familial focal, with variable foci 3 | ||
NRXN1 | Pitt-Hopkins-like syndrome 2 | ||
NTHL1 | Familial adenomatous polyposis 3 | ||
NTRK1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
OBSCN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
OCLN | Pseudo-TORCH syndrome 1 | ||
OPA1 | Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) | ||
OPA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
OPA3 (isoformA&B) | 3-methylglutaconic aciduria, type III, Optic atrophy 3 with cataract | ||
OPA3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ORAI1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
OTC | Ornithine transcarbamylase deficiency | ||
PABPN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PAFAH1B1 | Lissencephaly 1, Subcortical laminar heterotopia | ||
PAK3 | Mental retardation, X-linked 30/47 | ||
PALB2 | Breast cancer, susceptibility | ||
PAX7 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PCDH19 | Epileptic encephalopathy, early infantile, 9 | ||
PCK2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PCSK9 | Hypercholesterolemia | FH | |
PDGFRA | Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | ||
PDHA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PDK3 | CMTX6 | ||
PDK3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PDSS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PDSS2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PDXK | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | ||
PEX10 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PEX7 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PFKM | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PGAM2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PGK1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PGM1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PHF6 | Borjeson-Forssman-Lehmann syndrome | ||
PHGDH | Neu-Laxova syndrome 1/Phosphoglycerate dehydrogenase deficiency | ||
PHKA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PHKB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PHYH | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PIEZO2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | ||
PIGG | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | ||
PIGN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | ||
PIGO | Hyperphosphatasia with impaired intellectual development syndrome 2 | ||
PIGT | Multiple congenital anomalie-hypotonia-seizures syndrome 3 | ||
PIGV | Hyperphosphatasia with impaired intellectual development syndrome 1 | ||
PLCB1 | Epileptic encephalopathy, early infantile, 12 | ||
PLEC | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PLEKHG5 | Charcot-Marie-Tooth disease, recessive intermediate C | ||
PLEKHG5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PLG | Dysplasminogenemia | ||
PLPBP | Epilepsy, early-onset, vitamin B6-dependent | ||
PMM2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PMP2 | Charcot-Marie-Tooth disease, demyelinating, type 1G | ||
PMP2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PMP22 | Charcot-Marie-Tooth disease, type 1A, 1E | ||
PMP22 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PMS2 | Colorectal cancer, hereditary nonpolyposis | ||
PNKP | Charcot-Marie-Tooth disease, type 2B2 | ||
PNKP | Ataxia-oculomotor apraxia 4/Microcephaly, seizures, and developmental delay | ||
PNKP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PNPLA2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PNPLA8 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | ||
POGLUT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POLD1 | Colorectal Cancer | ||
POLE | Colorectal cancer 12 | ||
POLG | Mitochondrial DNA depletion syndrome 4A (Alpers type)/ Mitochondrial DNA depletion syndrome 4B (MNGIE type)/ Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)/ rogressive external ophthalmoplegia, autosomal dominant 1/Progressive external ophthalmoplegia, autosomal recessive 1 | ||
POLG | Mitochondrial DNA depletion syndrome 4A, 4B, Progressive external ophthalmoplegia AD 1, AR1 | ||
POLG | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | ||
POLG2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POLR3A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POLR3B | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ||
POMGNT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 | ||
POMGNT2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POMK | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | ||
POMK | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ||
POMT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | ||
POMT2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POPDC3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
POT1 | Glioma susceptibility 9 | ||
PPOX | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PPT1 | Ceroid lipofuscinosis, neuronal, 1 | ||
PPT1 | Ceroid lipofuscinosis, neuronal, 1 | ||
PRDM12 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PREPL | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PRKAG2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PRKAR1A | Carney complex, type 1 | ||
PRNP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PRPS1 | CMTX5 | ||
PRPS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PRRT2 | Convulsions, familial infantile, with paroxysmal choreoathetosis/Episodic kinesigenic dyskinesia 1/Seizures, benign familial infantile, 2 | ||
PRX | Charcot-Marie-Tooth disease, type 4F | ||
PRX | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PSAP | Metachromatic leukodystrophy due to SAP-b deficiency | ||
PSAT1 | Phosphoserine aminotransferase deficiency/Neu-Laxova syndrome 2 | ||
PSPH | Phosphoserine phosphatase deficiency | ||
PTCH1 | Basal cell nevus syndrome | ||
PTEN (incl. 5'UTR) | Cowden syndrome 1 | ||
PTPN11 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PTRH2 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | ||
PURA | Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties | ||
PURA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PUS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PYGM | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
PYROXD1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RAB18 | Warburg micro syndrome 3 | ||
RAB39B | Mental retardation, X-linked 72 | ||
RAB3GAP1 | Warburg micro syndrome 1 | ||
RAB3GAP2 | Warburg micro syndrome 2 | ||
RAB7A | Charcot-Marie-Tooth disease, type 2B | ||
RAB7A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RAD51C | Breast-ovarian cancer, familial, susceptibility | ||
RAD51D | Breast-ovarian cancer, familial, susceptibility | ||
RAPSN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RB1 | Retinoblastoma | ||
RBCK1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RECQL | | ||
REEP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RELN | Lissencephaly 2 (Norman-Roberts type) | ||
RET | Multiple endocrine neoplasia IIA | ||
RET | Medullary thyroid carcinoma | ||
RETREG1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RFC1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RFC1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RILPL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RNASEH1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RNF43 | Sessile serrated polyposis cancer syndrome | ||
ROGDI | Kohlschutter-Tonz syndrome | ||
RPH3A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RPS20 | | ||
RRM2B | Mitochondrial DNA depletion syndrome 8A, 8B, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | ||
RRM2B | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RTTN | Microcephaly, short stature, and polymicrogyria with seizures | ||
RXYLT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RYR1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
RYR3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SACS | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SAR1B | Chylomicron retention disease | FH | |
SEPT9 | Amyotrophy, hereditary neuralgic | ||
SBF1 | Charcot-Marie-Tooth disease, type 4B3 | ||
SBF1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SBF2 | CMT4B2 | ||
SBF2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SCARB1 | Candidate gene for dyslipidemia | FH | |
SCARB2 | Epilepsy, progressive myoclonic 4, with or without renal failure | ||
SCN10A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SCN11A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SCN1A | Dravet syndrome/Epilepsy, generalized, with febrile seizures plus, type 2/Febrile seizures, familial, 3A/Migraine, familial hemiplegic, 3 | ||
SCN1B | Epilepsy, generalized, with febrile seizures plus, type 1/Atrial fibrillation, familial, 13/Brugada syndrome 5 | ||
SCN2A | Epileptic encephalopathy, early infantile, 11/Seizures, benign familial infantile, 3 | ||
SCN3A | Develpmental and epileptic encephalopathy 62; Epilepsy, familial focal, with variable foci 4 | ||
SCN4A | Hyperkalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 2 Paramyotonia congenital, Myotonia congenita, | ||
SCN4A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SCN8A | Epileptic encephalopathy, early infantile, 13/Seizures, benign familial infantile, 5 | ||
SCN9A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SCO2 | Mitochondrial complex IV deficiency, nuclear type 2 | ||
SCO2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SDHA | Paragangliomas 5 | ||
SDHAF2 | Paragangliomas 2 | ||
SDHB | Cowden syndrome 2 , Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma , Paragangliomas 4, Pheochromocytoma | ||
SDHC | Gastrointestinal stromal tumor | ||
SDHD | Paraganglioma and gastric stromal sarcoma | ||
SELENON | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SELRC1 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | ||
SEPTIN9 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies | ||
SETX | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | ||
SETX | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SGCA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SGCB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SGCD | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SGCE | Dystonia-11, myoclonic | ||
SGCG | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SGPL1 | Nephrotic syndrome, type 14 | ||
SGPL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SGSH | Mucopolysaccharidosis IIIA | ||
SH3TC2 | Charcot-Marie-Tooth disease, type 4C | ||
SH3TC2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SIGMAR1 | Spinal muscular atrophy, distal, autosomal recessive, 2 | ||
SIGMAR1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SIL1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC12A3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC12A5 | Developmental and epileptic encephalopathy 34 | ||
SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy | ||
SLC12A6 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC13A5 | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta | ||
SLC16A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC17A5 | Sialic acid storage disorder | ||
SLC18A3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC19A3 | Thiamine metabolism dysfunction syndrome 2 (biotin-or-thiamine-responsive encephalopathy type 2) | ||
SLC22A5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A12 | Developmental and epileptic encephalopathy 39 | ||
SLC25A13 | Citrullinemia type II / NCCID | ||
SLC25A15 | Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome | ||
SLC25A19 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A2 | Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome | ||
SLC25A20 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A22 | Developmental and epileptic encephalopathy 3 | ||
SLC25A3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A32 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A32 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A4 | Mitochondrial DNA depletion syndrome 12A-AD, 12B-AR, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | ||
SLC25A4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A42 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC25A46 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC2A1 | Dystonia 9/GLUT1 deficiency syndrome 1, infantile onset, severe/GLUT1 deficiency syndrome 2, childhood onset/Epilepsy, idiopathic generalized, susceptibility to, 12 | ||
SLC35A2 | Congenital disorder of glycosylation, type IIm | ||
SLC52A2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC52A3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC5A7 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SLC6A1 | Myoclonic-atonic epilepsy | ||
SLC6A8 | Cerebral creatine deficiency syndrome 1 | ||
SLC7A7 | Lysinuric protein intolerance | ||
SLC9A3R1 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | ||
SLC9A6 | Mental retardation, X-linked syndromic, Christianson type | ||
SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ||
SMARCA2 | Nicolaides-Baraitser syndrome | ||
SMARCA4 | Rhabdoid tumor predisposition syndrome 2 | ||
SMARCB1 | Rhabdoid tumor predisposition syndrome 1 | ||
SMARCE1 | Meningioma, familial, susceptibility to | ||
SMCHD1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SMN1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SMPD1 | Niemann-Pick disease A/B | ||
SNAP25 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | ||
SORD | Sorbitol dehydrogenase deficiency with peripheral neuropathy | ||
SORD | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SOX10 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SPAST | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SPEG | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SPG11 | Charcot-Marie-Tooth disease, axonal, type 2X | ||
SPG11 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SPG7 (isoform1&2) | Spastic paraplegia 7, autosomal recessive | ||
SPTAN1 | Epileptic encephalopathy, early infantile, 5 | ||
SPTBN4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | single single CMT Charcot-Marie-Tooth | |
SPTLC1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SPTLC2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SRD5A3 | Congenital disorder of glycosylation, type Iq | ||
ST3GAL5 | Salt and pepper developmental regression | ||
STAC3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
STAP1 | Candidate gene for dyslipidemia | FH | |
STIM1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
STK11 | Melanoma, malignant, somatic, Pancreatic cancer | ||
STX1B | Generalized epilepsy with febrile seizures plus, type 9 | ||
STXBP1 | Epileptic encephalopathy, early infantile, 4 | ||
SUCLA2 | Mitochondrial DNA depletion syndrome 5 | ||
SUCLA2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SUCLG1 | Mitochondrial DNA depletion syndrome 9 | ||
SUFU | Meningioma, familial, susceptibility to | ||
SUMF1 | Multiple sulfatase deficiency | ||
SUOX | Sulfite oxidase deficiency | ||
SURF1 | Charcot-Marie-Tooth disease, type 4K | ||
SURF1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SVIL | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | ||
SYNE1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SYNE2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SYNGAP1 | Mental retardation, autosomal dominant 5 | ||
SYNJ1 | Developmental and epileptic encephalopathy 53 | ||
SYT2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
SZT2 | Developmental and epileptic encephalopathy 18 | ||
TAFAZZIN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TANGO2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TBC1D24 | Epileptic encephalopathy, early infantile, 16/Myoclonic epilepsy, infantile, familial/DOOR syndrome | ||
TCAP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TCF4 | Corneal dystrophy, Fuchs endothelial, 3/Pitt-Hopkins syndrome | ||
TFG | Hereditary motor and sensory neuropathy, Okinawa type | ||
TFG | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
THBD | {Hemolytic uremic syndrome, atypical, susceptibility to, 6} | ||
TK2 | Mitochondrial DNA depletion syndrome 2 | ||
TK2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TMEM127 | Pheochromocytoma, susceptibility to | ||
TMEM43 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TNNC2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TNNI2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TNNT1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TNNT3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TNPO3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TOR1AIP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TP53 (incl. 5'UTR) | Breast cancer | ||
TPM2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TPM3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TPP1 | Ceroid lipofuscinosis, neuronal, 2 | ||
TPP1 | Ceroid lipofuscinosis, neuronal, | ||
TRAPPC11 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRIM2 | Charcot-Marie-Tooth disease, type 2R | ||
TRIM2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRIM32 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRIM54 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRIM63 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRIP4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRMT5 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRPA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TRPM3 | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | ||
TRPV4 | Hereditary motor and sensory neuropathy, type IIc | ||
TRPV4 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TSC1 | Lymphangioleiomyomatosis/Tuberous sclerosis-1 | ||
TSC1 | Tuberous sclerosis-1 | ||
TSC2 | Lymphangioleiomyomatosis, somatic/Tuberous sclerosis-2 | ||
TSC2 | Tuberous sclerosis-2 | ||
TSFM | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TTN | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TTPA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TTR | Amyloidosis, hereditary, transthyretin-related | single single CMT Charcot-Marie-Tooth | |
TTR | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TUBA1A | Lissencephaly 3 | ||
TUBB | Cortical dysplasia, complex, with other brain malformations 6 | ||
TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 | ||
TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 | ||
TUBB3 | Cortical dysplasia, complex, with other brain malformations 1 | ||
TUBB3 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
TWNK | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ||
TYMP | Mitochondrial DNA depletion syndrome 1 | ||
TYMP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
UBA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
UBA5 | Developmental and epileptic encephalopathy 44 | ||
UBE3A | Angelman syndrome | ||
UNC13A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
UNC45B | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VAMP1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VAPB | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VCP | Charcot-Marie-Tooth disease, type 2Y | ||
VCP | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VHL | Pheochromocytoma | ||
VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | ||
VMA21 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VPS13A | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VRK1 | Pontocerebellar hypoplasia type 1A | ||
VRK1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VTN | Candidate gene for atypical hemolytic uremic syndrome | ||
VWA1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
VWF | von Willebrand disease, type 1 / type 2A, 2B, 2M, 2N / type 3 | ||
WARS | Neuronopathy, distal hereditary motor, type IX | ||
WARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
WDR45 | Neurodegeneration with brain iron accumulation 5 | ||
WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ||
WNK1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
WWOX | Developmental and epileptic encephalopathy 28 | ||
XK | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
XPA | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
YARS | Charcot-Marie-Tooth disease, dominant intermediate C | ||
YARS1 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
YARS2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
YWHAG | Developmental and epileptic encephalopathy 56 | ||
ZEB2 | Mowat-Wilson syndrome | ||
ZFHX2 | Neuromuscular Diseases | Neuromuscular Diseases Panel | |
ZFYVE26 | Neuromuscular Diseases | Neuromuscular Diseases Panel |
