Genes associated with “Charcot-Marie-Tooth”
How are genes scored? (0–100 composite)
Strong Candidates
34 genesheat shock protein family B (small) member 1
dynein cytoplasmic 1 heavy chain 1
neurofilament heavy chain
mitofusin 2
lamin A/C
ATPase Na+/K+ transporting subunit alpha 1
RAB7A, member RAS oncogene family
glycyl-tRNA synthetase 1
histidine triad nucleotide binding protein 1
immunoglobulin mu DNA binding protein 2
SPG11 vesicle trafficking associated, spatacsin
valosin containing protein
N-acetyl-alpha-glucosaminidase
transient receptor potential cation channel subfamily V member 4
mitochondrial inner membrane protein MPV17
BSCL2 lipid droplet biogenesis associated, seipin
tripartite motif containing 2
DnaJ heat shock protein family (Hsp40) member B2
Consider
35 genespolynucleotide kinase 3'-phosphatase
dehydrogenase E1 and transketolase domain containing 1
methionyl-tRNA synthetase 1
kinesin family member 1B
kinesin family member 5A
heat shock protein family B (small) member 8
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ; CMT2JJ
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1
Charcot-Marie-Tooth neuropathy, X-linked recessive, 2
Charcot-Marie-Tooth neuropathy, X-linked recessive, 3
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6
histidyl-tRNA synthetase 1
mediator complex subunit 25
Possible
35 genes — click to expand
kinesin family member 1A
ATPase copper transporting alpha
solute carrier family 5 member 7
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1; CMT4B1
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B2; CMT4B2
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4H; CMT4H
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3; HMND3
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7; HMND7
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A
heat shock protein family B (small) member 3
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.