Charcot-Marie-Tooth Disease(Charcot Marie Tooth)
An Autosomal dominant, Autosomal recessive, X-linked recessive, X-linked dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked recessive, X-linked dominant mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | FGD4/121512 | FYVE, RhoGEF and PH domain containing 4 | 12p11.21 | Chr12, NC_000012.12 (32399558..32646050) |
246493 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MED25/81857 | mediator complex subunit 25 | 19q13.33 | Chr19, NC_000019.10 (49818289..49840384) |
22096 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FIG4/9896 | FIG4 phosphoinositide 5-phosphatase | 6q21 | Chr6, NC_000006.12 (109691296..109825426) |
134131 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MFN2/9927 | mitofusin 2 | 1p36.22 | Chr1, NC_000001.11 (11980444..12013508) |
33065 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SH3TC2/79628 | SH3 domain and tetratricopeptide repeats 2 | 5q32 | Chr5, NC_000005.10 (148982150..149063062, complement) |
80913 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | HSPB8/26353 | heat shock protein family B (small) member 8 | 12q24.23 | Chr12, NC_000012.12 (119178931..119194746) |
15816 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | SBF2/81846 | SET binding factor 2 | 11p15.4 | Chr11, NC_000011.10 (9778668..10294219, complement) |
515552 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | GDAP1/54332 | ganglioside induced differentiation associated protein 1 | 8q21.11 | Chr8, NC_000008.11 (74350403..74488872) |
138470 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | KIF1B/23095 | kinesin family member 1B | 1p36.22 | Chr1, NC_000001.11 (10210570..10381603) |
171034 nt | 52 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | PRX/57716 | periaxin | 19q13.2 | Chr19, NC_000019.10 (40393764..40414789, complement) |
21026 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | TRPV4/59341 | transient receptor potential cation channel subfamily V member 4 | 12q24.11 | Chr12, NC_000012.12 (109783087..109833398, complement) |
50312 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | NDRG1/10397 | N-myc downstream regulated 1 | 8q24.22 | Chr8, NC_000008.11 (133237175..133297252, complement) |
60078 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | LITAF/9516 | lipopolysaccharide induced TNF factor | 16p13.13 | Chr16, NC_000016.10 (11547722..11640317, complement) |
92596 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | YARS1/8565 | tyrosyl-tRNA synthetase 1 | 1p35.1 | Chr1, NC_000001.11 (32775239..32817358, complement) |
42120 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | MTMR2/8898 | myotubularin related protein 2 | 11q21 | Chr11, NC_000011.10 (95832880..95924107, complement) |
91228 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | DNM2/1785 | dynamin 2 | 19p13.2 | Chr19, NC_000019.10 (10718079..10831903) |
113825 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | RAB7A/7879 | RAB7A, member RAS oncogene family | 3q21.3 | Chr3, NC_000003.12 (128726183..128814798) |
88616 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | HSPB1/3315 | heat shock protein family B (small) member 1 | 7q11.23 | Chr7, NC_000007.14 (76302673..76304292) |
1620 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | KARS1/3735 | lysyl-tRNA synthetase 1 | 16q23.1 | Chr16, NC_000016.10 (75627724..75647665, complement) |
19942 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | PMP22/5376 | peripheral myelin protein 22 | 17p12 | Chr17, NC_000017.11 (15229779..15265326, complement) |
35548 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | IGHMBP2/3508 | immunoglobulin mu DNA binding protein 2 | 11q13.3 | Chr11, NC_000011.10 (68903891..68940601) |
36711 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | GARS1/2617 | glycyl-tRNA synthetase 1 | 7p14.3 | Chr7, NC_000007.14 (30594735..30634033) |
39299 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | PRPS1/5631 | phosphoribosyl pyrophosphate synthetase 1 | Xq22.3 | ChrX, NC_000023.11 (107628510..107651026) |
22517 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | GJB1/2705 | gap junction protein beta 1 | Xq13.1 | ChrX, NC_000023.11 (71215239..71225516) |
10278 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | NEFL/4747 | neurofilament light chain | 8p21.2 | Chr8, NC_000008.11 (24950955..24956612, complement) |
5658 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | MPZ/4359 | myelin protein zero | 1q23.3 | Chr1, NC_000001.11 (161303600..161309968, complement) |
6369 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | LMNA/4000 | lamin A/C | 1q22 | Chr1, NC_000001.11 (156082573..156140081) |
57509 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | EGR2/1959 | early growth response 2 | 10q21.3 | Chr10, NC_000010.11 (62811996..62819167, complement) |
7172 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | RETREG1/54463 | reticulophagy regulator 1 | 5p15.1 | Chr5, NC_000005.10 (16473053..16616997, complement) |
143945 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | DYNC1H1/1778 | dynein cytoplasmic 1 heavy chain 1 | 14q32.31 | Chr14, NC_000014.9 (101964573..102056443) |
91871 nt | 78 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 31 | LRSAM1/90678 | leucine rich repeat and sterile alpha motif containing 1 | 9q34.11 | Chr9, NC_000009.12 (127451486..127503501) |
52016 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | INF2/64423 | inverted formin 2 | 14q32.33 | Chr14, NC_000014.9 (104689618..104722535) |
32918 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | DHTKD1/55526 | dehydrogenase E1 and transketolase domain containing 1 | 10p14 | Chr10, NC_000010.11 (12068954..12123221) |
54268 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | AIFM1/9131 | apoptosis inducing factor mitochondria associated 1 | Xq26.1 | ChrX, NC_000023.11 (130129362..130165841, complement) |
36480 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 35 | HK1/3098 | hexokinase 1 | 10q22.1 | Chr10, NC_000010.11 (69270000..69401882) |
131883 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 36 | GNB4/59345 | G protein subunit beta 4 | 3q26.33 | Chr3, NC_000003.12 (179396088..179527798, complement) |
131711 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 37 | SBF1/6305 | SET binding factor 1 | 22q13.33 | Chr22, NC_000022.11 (50445000..50475035, complement) |
30036 nt | 41 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 38 | PDK3/5165 | pyruvate dehydrogenase kinase 3 | Xp22.11 | ChrX, NC_000023.11 (24465286..24550466) |
85181 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 39 | PLEKHG5/57449 | pleckstrin homology and RhoGEF domain containing G5 | 1p36.31 | Chr1, NC_000001.11 (6467122..6520092, complement) |
52971 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 40 | TRIM2/23321 | tripartite motif containing 2 | 4q31.3 | Chr4, NC_000004.12 (153152163..153339317) |
187155 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 41 | COX6A1/1337 | cytochrome c oxidase subunit 6A1 | 12q24.31 | Chr12, NC_000012.12 (120438113..120440730) |
2618 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 42 | GAN/8139 | gigaxonin | 16q23.2 | Chr16, NC_000016.10 (81314962..81390809) |
75848 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 43 | ARHGEF10/9639 | Rho guanine nucleotide exchange factor 10 | 8p23.3 | Chr8, NC_000008.11 (1823300..1958641) |
135342 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 44 | MARS1/4141 | methionyl-tRNA synthetase 1 | 12q13.3 | Chr12, NC_000012.12 (57488068..57516652) |
28585 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 45 | NAGLU/4669 | N-acetyl-alpha-glucosaminidase | 17q21.2 | Chr17, NC_000017.11 (42536241..42544449) |
8209 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 46 | DNAJB2/3300 | DnaJ heat shock protein family (Hsp40) member B2 | 2q35 | Chr2, NC_000002.12 (219279366..219286895) |
7530 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 47 | SPG11/80208 | SPG11 vesicle trafficking associated, spatacsin | 15q21.1 | Chr15, NC_000015.10 (44562696..44663662, complement) |
100967 nt | 42 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 48 | SURF1/6834 | SURF1 cytochrome c oxidase assembly factor | 9q34.2 | Chr9, NC_000009.12 (133351758..133356487, complement) |
4730 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 49 | VCP/7415 | valosin containing protein | 9p13.3 | Chr9, NC_000009.12 (35056064..35072625, complement) |
16562 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 50 | MORC2/22880 | MORC family CW-type zinc finger 2 | 22q12.2 | Chr22, NC_000022.11 (30925130..30968774, complement) |
43645 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 51 | NEFH/4744 | neurofilament heavy chain | 22q12.2 | Chr22, NC_000022.11 (29480218..29491390) |
11173 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 52 | BSCL2/26580 | BSCL2 lipid droplet biogenesis associated, seipin | 11q12.3 | Chr11, NC_000011.10 (62690262..62709537, complement) |
19276 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 53 | MME/4311 | membrane metalloendopeptidase | 3q25.2 | Chr3, NC_000003.12 (155024202..155183729) |
159528 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 54 | ATP1A1/476 | ATPase Na+/K+ transporting subunit alpha 1 | 1p13.1 | Chr1, NC_000001.11 (116373244..116404774) |
31531 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 55 | NTRK1/4914 | neurotrophic receptor tyrosine kinase 1 | 1q23.1 | Chr1, NC_000001.11 (156815750..156881850) |
66101 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 56 | PMP2/5375 | peripheral myelin protein 2 | 8q21.13 | Chr8, NC_000008.11 (81440326..81447439, complement) |
7114 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 57 | MPV17/4358 | mitochondrial inner membrane protein MPV17 | 2p23.3 | Chr2, NC_000002.12 (27309492..27323097, complement) |
13606 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 58 | HINT1/3094 | histidine triad nucleotide binding protein 1 | 5q23.3 | Chr5, NC_000005.10 (131159027..131165256, complement) |
6230 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 59 | WNK1/65125 | WNK lysine deficient protein kinase 1 | 12p13.33 | Chr12, NC_000012.12 (752579..911452) |
158874 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 60 | SPTLC2/9517 | serine palmitoyltransferase long chain base subunit 2 | 14q24.3 | Chr14, NC_000014.9 (77505997..77616637, complement) |
110641 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 61 | DNMT1/1786 | DNA methyltransferase 1 | 19p13.2 | Chr19, NC_000019.10 (10133346..10194953, complement) |
61608 nt | 41 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 62 | SEPTIN9/10801 | septin 9 | 17q25.3 | Chr17, NC_000017.11 (77281499..77500596) |
219098 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 63 | CADM3/57863 | cell adhesion molecule 3 | 1q23.2 | Chr1, NC_000001.11 (159171615..159203313) |
31699 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 64 | HSPB3/8988 | heat shock protein family B (small) member 3 | 5q11.2 | Chr5, NC_000005.10 (54455699..54456377) |
679 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 65 | KIF5A/3798 | kinesin family member 5A | 12q13.3 | Chr12, NC_000012.12 (57550044..57586633) |
36590 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 66 | SLC5A7/60482 | solute carrier family 5 member 7 | 2q12.3 | Chr2, NC_000002.12 (107986524..108013994) |
27471 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 67 | JAG1/182 | jagged canonical Notch ligand 1 | 20p12.2 | Chr20, NC_000020.11 (10637684..10673999, complement) |
36316 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 68 | POLR3B/55703 | RNA polymerase III subunit B | 12q23.3 | Chr12, NC_000012.12 (106357748..106510198) |
152451 nt | 30 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 69 | FBLN5/10516 | fibulin 5 | 14q32.12 | Chr14, NC_000014.9 (91869411..91947694, complement) |
78284 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 70 | SLC12A6/9990 | solute carrier family 12 member 6 | 15q14 | Chr15, NC_000015.10 (34229784..34338057, complement) |
108274 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 71 | ITPR3/3710 | inositol 1,4,5-trisphosphate receptor type 3 | 6p21.31 | Chr6, NC_000006.12 (33621322..33696562) |
75241 nt | 62 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 72 | DHX9/1660 | DExH-box helicase 9 | 1q25.3 | Chr1, NC_000001.11 (182839347..182887982) |
48636 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |