Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS gene AARS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, axonal, type 2N, 613287;HMSN, dHMN/dSMA Peripheral neuropathy;HP:0009830 20045102;22009580;22206013;30373780;26032230 False 3 100;0;0 1.51 True ENSG00000090861 ENSG00000090861 HGNC:20 ATL1 gene ATL1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HSAN/SFN;Neuropathy, hereditary sensory, type ID , MIM#613708;MONDO:0013381 Peripheral neuropathy;HP:0009830 21194679;24604904;22340599 False 3 100;0;0 1.51 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATL3 gene ATL3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary sensory neuropathy type IF;HSAN/SFN Peripheral neuropathy;HP:0009830 24459106;30666337;30339187;24736309 False 3 100;0;0 1.51 True ENSG00000184743 ENSG00000184743 HGNC:24526 ATP1A1 gene ATP1A1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036;MONDO:0054833 Peripheral neuropathy;HP:0009830 29499166 False 3 100;0;0 1.51 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP7A gene ATP7A Expert Review Green;NHS GMS;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, X-linked 3, MIM# 300489;dHMN/dSMA Peripheral neuropathy;HP:0009830 20170900;33137485;31969342;31558336 False 3 100;0;0 1.51 True ENSG00000165240 ENSG00000165240 HGNC:869 BICD2 gene BICD2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290;MONDO:0014121;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291;dHMN/dSMA Peripheral neuropathy;HP:0009830 23664116;23664119;23664120;27751653;28635954;30054298;29528393 False 3 100;0;0 1.51 True ENSG00000185963 ENSG00000185963 HGNC:17208 BSCL2 gene BSCL2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VC, MIM# 619112 Peripheral neuropathy;HP:0009830 14981520;15732094 False 3 100;0;0 1.51 True ENSG00000168000 ENSG00000168000 HGNC:15832 CADM3 gene CADM3 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519 Peripheral neuropathy;HP:0009830 33889941;38074074 False 3 33;67;0 1.51 True ENSG00000162706 ENSG00000162706 HGNC:17601 CHCHD10 gene CHCHD10 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, Jokela type: 615048;CMT2;dHMN/dSMA Peripheral neuropathy;HP:0009830 22535186;27066538 False 3 100;0;0 1.51 True ENSG00000250479 ENSG00000250479 HGNC:15559 COX20 gene COX20 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal sensory neuronopathy;sensory neuron disease;ganglionopathy Peripheral neuropathy;HP:0009830 PMID: 33751098 False 3 100;0;0 1.51 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate D, 616039;MONDO:0014467;HMSN Peripheral neuropathy;HP:0009830 25152455;26302975;25152455 False 3 100;0;0 1.51 True ENSG00000111775 ENSG00000111775 HGNC:2277 DCTN1 gene DCTN1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641;MONDO:0011879 Peripheral neuropathy;HP:0009830 12627231;15326253;33443672;32023010;27573046 False 3 100;0;0 1.51 True ENSG00000204843 ENSG00000204843 HGNC:2711 DHX9 gene DHX9 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related Peripheral neuropathy;HP:0009830 37467750 False 3 100;0;0 1.51 True ENSG00000135829 ENSG00000135829 HGNC:2750 DNAJB2 gene DNAJB2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Peripheral neuropathy;HP:0009830 22522442;25274842;33369814;22522442 False 3 100;0;0 1.51 True ENSG00000135924 ENSG00000135924 HGNC:5228 DNM2 gene DNM2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482;Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482;MONDO:0011674 Peripheral neuropathy;HP:0009830 15731758;17636067;33459893;31628461 False 3 100;0;0 1.51 True ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT1 gene DNMT1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type IE, 614116;Dementia, Deafness, and Sensory Neuropathy;HSAN/SFN Peripheral neuropathy;HP:0009830 21532572 False 3 100;0;0 1.51 True ENSG00000130816 ENSG00000130816 HGNC:2976 DRP2 gene DRP2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot Marie Tooth, intermediate X-linked;HMSN Peripheral neuropathy;HP:0009830 22764250;26227883;31217940 False 3 100;0;0 1.51 True ENSG00000102385 ENSG00000102385 HGNC:3032 DST gene DST Expert Review Green;Literature;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653;MONDO:0013839;HSAN/SFN" Peripheral neuropathy;HP:0009830 22522446;30371979;28468842 False 3 100;0;0 1.51 True ENSG00000151914 ENSG00000151914 HGNC:1090 DYNC1H1 gene DYNC1H1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 Peripheral neuropathy;HP:0009830 21820100;32788638;27549087 False 3 100;0;0 1.51 True ENSG00000197102 ENSG00000197102 HGNC:2961 EGR2 gene EGR2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 1D 607678 AD;Dejerine-Sottas disease 145900 AD, AR;Hypomyelinating neuropathy, congenital, 1 605253 AD, AR Peripheral neuropathy;HP:0009830 11523566;31852952 False 3 100;0;0 1.51 True Other ENSG00000122877 ENSG00000122877 HGNC:3239 ELP1 gene ELP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, 223900;Riley-Day syndrome MONDO:0009131;Hereditary sensory and autonomic neuropathy 3;HSAN/SFN Peripheral neuropathy;HP:0009830 11179008;11179021;17644305 False 3 100;0;0 1.51 True ENSG00000070061 ENSG00000070061 HGNC:5959 FBLN5 gene FBLN5 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895 Peripheral neuropathy;HP:0009830 32757322;31945625;23328402;28332470 False 3 100;0;0 1.51 True ENSG00000140092 ENSG00000140092 HGNC:3602 FGD4 gene FGD4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4H, 609311;MONDO:0012250;HMSN Peripheral neuropathy;HP:0009830 17564959;31152969;28847448;28543957 False 3 100;0;0 1.51 True ENSG00000139132 ENSG00000139132 HGNC:19125 FICD gene FICD Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 92, autosomal recessive, MIM# 620911 Peripheral neuropathy;HP:0009830 36136088 False 3 100;0;0 1.51 True ENSG00000198855 ENSG00000198855 HGNC:18416 FIG4 gene FIG4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4J, MIM# 611228;MONDO:0012640;HMSN Peripheral neuropathy;HP:0009830 17572665;21705420;24878229 False 3 100;0;0 1.51 True ENSG00000112367 ENSG00000112367 HGNC:16873 GARS gene GARS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HMSN, dHMN/dSMA;Spinal muscular atrophy, infantile, James type, MIM# 619042;Neuropathy, distal hereditary motor, type V, 600794;Charcot Marie Tooth disease, type 2D, 601472 Peripheral neuropathy;HP:0009830 17101916;22462675;31985473;32181591;12690580;25168514;26503042;29648643;16982418 False 3 100;0;0 1.51 True ENSG00000106105 ENSG00000106105 HGNC:4162 GBF1 gene GBF1 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483;Axonal Neuropathy Peripheral neuropathy;HP:0009830 32937143 False 3 100;0;0 1.51 True ENSG00000107862 ENSG00000107862 HGNC:4181 GDAP1 gene GDAP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706;Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340;Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Peripheral neuropathy;HP:0009830 16172208;21753178;21365284;20232219;11743580 False 3 100;0;0 1.51 True ENSG00000104381 ENSG00000104381 HGNC:15968 GJB1 gene GJB1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800;MONDO:0010549;HMSN Peripheral neuropathy;HP:0009830 8266101;17100997;17353473 False 3 100;0;0 1.51 True ENSG00000169562 ENSG00000169562 HGNC:4283 GNB4 gene GNB4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185;MONDO:0014074;HMSN Peripheral neuropathy;HP:0009830 23434117;28642160;27908631 False 3 100;0;0 1.51 True ENSG00000114450 ENSG00000114450 HGNC:20731 HARS gene HARS Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625;MONDO:0014711;HMSN Peripheral neuropathy;HP:0009830 26072516 False 3 100;0;0 1.51 True ENSG00000170445 ENSG00000170445 HGNC:4816 HINT1 gene HINT1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200;Gamstorp-Wohlfart syndrome, MONDO:0007646;HMSN, dHMN/dSMA Peripheral neuropathy;HP:0009830 22961002;33663550;33404983;31848916 False 3 100;0;0 1.51 True ENSG00000169567 ENSG00000169567 HGNC:4912 HK1 gene HK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Neuropathy, hereditary motor and sensory, Russe type, 605285 Peripheral neuropathy;HP:0009830 19536174;26822750 False 3 100;0;0 1.51 True ENSG00000156515 ENSG00000156515 HGNC:4922 HSPB1 gene HSPB1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, axonal, type 2F, 606595;MONDO:0011687;HMSN, dHMN/dSMA;Neuropathy, distal hereditary motor, type IIB, 608634;MONDO:0012080 Peripheral neuropathy;HP:0009830 21785432;15122254;18832141;32639100;32334137 False 3 100;0;0 1.51 True ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN, dHMN/dSMA;Neuropathy, distal hereditary motor, type IIA, 158590;Charcot Marie Tooth disease, axonal, type 2L, 608673 Peripheral neuropathy;HP:0009830 15122253;15565283;29029362;28780615;28144995;26718575 False 3 100;0;0 1.51 True ENSG00000152137 ENSG00000152137 HGNC:30171 IGHMBP2 gene IGHMBP2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN, dHMN/dSMA;Charcot-Marie-Tooth disease, axonal, type 2S 616155;Neuronopathy, distal hereditary motor, type VI, 604320 Peripheral neuropathy;HP:0009830 25439726 False 3 100;0;0 1.51 True ENSG00000132740 ENSG00000132740 HGNC:5542 INF2 gene INF2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate E, 614455;HMSN Peripheral neuropathy;HP:0009830 22187985;30680856;25943269 False 3 100;0;0 1.51 True ENSG00000203485 ENSG00000203485 HGNC:23791 ITPR3 gene ITPR3 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111 Peripheral neuropathy;HP:0009830 32949214;24627108 False 3 100;0;0 1.51 True Other ENSG00000096433 ENSG00000096433 HGNC:6182 JAG1 gene JAG1 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral neuropathy Peripheral neuropathy;HP:0009830 32065591;25707699 False 3 50;50;0 1.51 True ENSG00000101384 ENSG00000101384 HGNC:6188 KIF1A gene KIF1A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN/SFN;Neuropathy, hereditary sensory, type IIC, 614213 Peripheral neuropathy;HP:0009830 21820098;28708278 False 3 100;0;0 1.51 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF5A gene KIF5A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;HMSN Peripheral neuropathy;HP:0009830 30057544;29892902;28902413;26403765;25695920;25008398 False 3 100;0;0 1.51 True ENSG00000155980 ENSG00000155980 HGNC:6323 LITAF gene LITAF Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 1C, MIM# 601098;MONDO:0010995 Peripheral neuropathy;HP:0009830 12525712;19541485;23359569;32665875;28211240 False 3 100;0;0 1.51 True ENSG00000189067 ENSG00000189067 HGNC:16841 LRSAM1 gene LRSAM1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436;MONDO:0013753;HMSN Peripheral neuropathy;HP:0009830 20865121;22012984;22781092;27686364;33568173;33414056;30996334 False 3 100;0;0 1.51 True ENSG00000148356 ENSG00000148356 HGNC:25135 MFN2 gene MFN2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A 609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087;Hereditary motor and sensory neuropathy VIA, MIM# 601152 Peripheral neuropathy;HP:0009830 15064763;15549395;16437557;20008656 False 3 100;0;0 1.51 True ENSG00000116688 ENSG00000116688 HGNC:16877 MME gene MME Expert Review Green;GeneReviews;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017;MONDO:0014866 Peripheral neuropathy;HP:0009830 26991897;27588448;33144514;31429185 False 3 100;0;0 1.51 True ENSG00000196549 ENSG00000196549 HGNC:7154 MORC2 gene MORC2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688;MONDO:0014736 Peripheral neuropathy;HP:0009830 26497905;26659848;28771897;27105897 False 3 50;0;50 1.51 True ENSG00000133422 ENSG00000133422 HGNC:23573 MPV17 gene MPV17 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Peripheral neuropathy;HP:0009830 22508010;26437932;30298599 False 3 100;0;0 1.51 True ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, dominant intermediate D, 60779;Neuropathy, congenital hypomyelinating, 605253;Charcot Marie Tooth disease, type 2J, 607736;Dejerine Sottas disease, 145900;Charcot Marie Tooth disease, type 1B, 118200;Charcot Marie Tooth disease, type 2I, 607677;HMSN Peripheral neuropathy;HP:0009830 19293842 False 3 100;0;0 1.51 True ENSG00000158887 ENSG00000158887 HGNC:7225 MTMR2 gene MTMR2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, 601382;HMSN;MONDO:0011066 Peripheral neuropathy;HP:0009830 10802647;16249189;33653949;32586600;32488727;31680794 False 3 100;0;0 1.51 True ENSG00000087053 ENSG00000087053 HGNC:7450 NDRG1 gene NDRG1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Charcot Marie Tooth disease, type 4D, 601455;MONDO:0011085 Peripheral neuropathy;HP:0009830 10831399;24136616;33334662;29724652;29174527;28776325 False 3 100;0;0 1.51 True ENSG00000104419 ENSG00000104419 HGNC:7679 NEFH gene NEFH Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2CC, 616924;HMSN Peripheral neuropathy;HP:0009830 30992180;27040688;28709447 False 3 100;0;0 1.51 True ENSG00000100285 ENSG00000100285 HGNC:7737 NEFL gene NEFL Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 2E, 607684;Charcot-Marie-Tooth disease, dominant intermediate G, 617882;HMSN;Charcot Marie Tooth disease, type 1F, 607734 Peripheral neuropathy;HP:0009830 10841809;12393795;14733962;24887401;25877835;20039262;12566280;29191368;28902413 False 3 100;0;0 1.51 True ENSG00000104725 ENSG00000277586 HGNC:7739 NGF gene NGF Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN/SFN;Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654;MONDO:0012092 Peripheral neuropathy;HP:0009830 14976160;20978020;33884296;32693191;31685654;30296891 False 3 100;0;0 1.51 True ENSG00000134259 ENSG00000134259 HGNC:7808 PDK3 gene PDK3 Expert list;Expert Review Green Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905;HMSN Peripheral neuropathy;HP:0009830 23297365;26801680;27388934;28902413 False 3 100;0;0 1.51 True ENSG00000067992 ENSG00000067992 HGNC:8811 PLEKHG5 gene PLEKHG5 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN, dHMN/dSMA;Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376;Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Peripheral neuropathy;HP:0009830 17564964;23777631;23844677;33492783;33275839;33220101;23777631 False 3 100;0;0 1.51 True ENSG00000171680 ENSG00000171680 HGNC:29105 PMP22 gene PMP22 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 1A, 118220;Roussy Levy syndrome, 180800;Neuropathy, inflammatory demyelinating, 139393;Neuropathy, recurrent, with pressure palsies, 162500;Charcot Marie Tooth disease, type 1E, 118300;Dejerine Sottas disease, 145900;HMSN Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.51 True ENSG00000109099 ENSG00000109099 HGNC:9118 PRDM12 gene PRDM12 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488;MONDO:0014662;HSAN/SFN Peripheral neuropathy;HP:0009830 26005867;33789102;33010785;32828702 False 3 100;0;0 1.51 True ENSG00000130711 ENSG00000130711 HGNC:13997 PRPS1 gene PRPS1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot Marie Tooth disease, X linked recessive, 5, 311070;HMSN Peripheral neuropathy;HP:0009830 17701900;24285972;25491489;25182139 False 3 100;0;0 1.51 True ENSG00000147224 ENSG00000147224 HGNC:9462 PRX gene PRX Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dejerine Sottas disease, autosomal recessive, 145900;Charcot Marie Tooth disease, type 4F, 614895;HMSN Peripheral neuropathy;HP:0009830 11133365;11157804;15197604;21079185;22847150;10839370;32460404;31523542;31426691 False 3 100;0;0 1.51 True ENSG00000105227 ENSG00000105227 HGNC:13797 RAB7A gene RAB7A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2B, MIM# 600882;MONDO:0010949 Peripheral neuropathy;HP:0009830 12545426;17060578;32326241;29130394;25614874 False 3 100;0;0 1.51 True ENSG00000075785 ENSG00000075785 HGNC:9788 REEP1 gene REEP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011;Neuronopathy, distal hereditary motor, type VB MIM#614751;Spastic paraplegia 31, autosomal dominant MIM#610250 Peripheral neuropathy;HP:0009830 27066569;31872057;22703882;29124833 False 3 100;0;0 1.51 True Other ENSG00000068615 ENSG00000068615 HGNC:25786 RETREG1 gene RETREG1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, 613115;HSAN/SFN Peripheral neuropathy;HP:0009830 19838196;24327336;31737055;31596031 False 3 100;0;0 1.51 True ENSG00000154153 ENSG00000154153 HGNC:25964 RTN2 gene RTN2 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 Peripheral neuropathy;HP:0009830 38527963 False 3 100;0;0 1.51 True ENSG00000125744 ENSG00000125744 HGNC:10468 SARS gene SARS Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic peripheral neuropathy MONDO#0020127, SARS1-related Peripheral neuropathy;HP:0009830 36088542 False 3 67;33;0 1.51 True ENSG00000031698 ENSG00000031698 HGNC:10537 SBF1 gene SBF1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3 , MIM#615284;MONDO:0014117 Peripheral neuropathy;HP:0009830 23749797;23749797;32444983;30039846;28005197 False 3 100;0;0 1.51 True ENSG00000100241 ENSG00000100241 HGNC:10542 SBF2 gene SBF2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Charcot Marie Tooth disease, type 4B2, MIM#604563 Peripheral neuropathy;HP:0009830 12554688;15477569;12687498;15304601;31772832;31070812 False 3 100;0;0 1.51 True ENSG00000133812 ENSG00000133812 HGNC:2135 SCN10A gene SCN10A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HSAN/SFN;Episodic pain syndrome, familial, 2, 615551 Peripheral neuropathy;HP:0009830 23115331;33775738;30731422;30554136 False 3 100;0;0 1.51 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN11A gene SCN11A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548;MONDO:0014244 Peripheral neuropathy;HP:0009830 24036948;25118027;30395542;33884296;32831372;30046661 False 3 100;0;0 1.51 True ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythermalgia, primary, MIM# 133020;Insensitivity to pain, congenital, MIM# 243000;Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000;Paroxysmal extreme pain disorder, MIM# 167400;Small fiber neuropathy,MIM# 133020 Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.51 True ENSG00000169432 ENSG00000169432 HGNC:10597 SCO2 gene SCO2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850 Peripheral neuropathy;HP:0009830 29351582;31844624;35112411 False 3 100;0;0 1.51 True ENSG00000130489 ENSG00000130489 HGNC:10604 SEPT9 gene SEPT9 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophy, hereditary neuralgic, MIM# 162100;HMSN Peripheral neuropathy;HP:0009830 16186812;19451530;19939853;19139049 False 3 100;0;0 1.51 True ENSG00000184640 ENSG00000184640 HGNC:7323 SH3TC2 gene SH3TC2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal HMSN;Charcot Marie Tooth disease, type 4C, 601596;Mononeuropathy of the median nerve, mild, 613353 Peripheral neuropathy;HP:0009830 19744956;20220177;19744956;20028792 False 3 100;0;0 1.51 True ENSG00000169247 ENSG00000169247 HGNC:29427 SIGMAR1 gene SIGMAR1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Distal spinal muscular atrophy, autosomal recessive 2;dHMN/dSMA;Distal hereditary motor neuropathy of Jerash type (HMNJ) Peripheral neuropathy;HP:0009830 31511340 False 3 100;0;0 1.51 True ENSG00000147955 ENSG00000147955 HGNC:8157 SLC12A6 gene SLC12A6 Expert Review Green;Other Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068) Peripheral neuropathy;HP:0009830 31439721;27485015;33323309 False 3 100;0;0 1.51 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC5A7 gene SLC5A7 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580;MONDO:0008024 Peripheral neuropathy;HP:0009830 23141292;15173594;29782645;29582019 False 3 100;0;0 1.51 True ENSG00000115665 ENSG00000115665 HGNC:14025 SMN1 gene SMN1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-1, MIM# 253300;Spinal muscular atrophy-2, MIM# 253550;Spinal muscular atrophy-3, MIM# 253400;Spinal muscular atrophy-4, MIM# 271150 Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.51 True ENSG00000172062 ENSG00000172062 HGNC:11117 SORD gene SORD Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal isolated hereditary neuropathy;Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912 Peripheral neuropathy;HP:0009830 32367058 False 3 100;0;0 1.51 True ENSG00000140263 ENSG00000140263 HGNC:11184 SPG11 gene SPG11 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Hereditary Neuropathies;axonal Charcot-Marie-Tooth disease type 2X;MONDO:0014726 Peripheral neuropathy;HP:0009830 26556829;33581793 False 3 100;0;0 1.51 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPTAN1 gene SPTAN1 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 Peripheral neuropathy;HP:0009830 33578420;31332438 False 3 100;0;0 1.51 True ENSG00000197694 ENSG00000197694 HGNC:11273 SPTLC1 gene SPTLC1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile amyotrophic lateral sclerosis-27, MIM#620285;HSAN/SFN;Hereditary Sensory and Autonomic Neuropathy, Type II;Neuropathy, hereditary sensory and autonomic, type IA, 162400 Peripheral neuropathy;HP:0009830 11242114;11242106;15037712;26681808 False 3 100;0;0 1.51 True ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IC, 613640;MONDO:0013337;HSAN/SFN Peripheral neuropathy;HP:0009830 20920666;23658386;31509666;30866134 False 3 100;0;0 1.51 True ENSG00000100596 ENSG00000100596 HGNC:11278 SYT2 gene SYT2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myasthenic syndrome, congenital, 7, presynaptic;HMSN Peripheral neuropathy;HP:0009830 25192047;30533528;26519543 False 3 100;0;0 1.51 True ENSG00000143858 ENSG00000143858 HGNC:11510 TFG gene TFG Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 Peripheral neuropathy;HP:0009830 25098539;23553329;22883144;31449671;31111683 False 3 100;0;0 1.51 True ENSG00000114354 ENSG00000114354 HGNC:11758 TRIM2 gene TRIM2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2R, MIM# 615490;MONDO:0014208;HMSN Peripheral neuropathy;HP:0009830 23562820;25893792;18687884;32815244;32205255;25893792 False 3 100;0;0 1.51 True ENSG00000109654 ENSG00000109654 HGNC:15974 TRPV4 gene TRPV4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN, dHMN/dSMA;Hereditary motor and sensory neuropathy, type IIc, MIM# 606071;Neuronopathy, distal hereditary motor, type VIII, MIM# 600175 Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.51 True ENSG00000111199 ENSG00000111199 HGNC:18083 UBA1 gene UBA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females dHMN/dSMA;Spinal muscular atrophy, X-linked 2, MIM# 301830 Peripheral neuropathy;HP:0009830 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 3 100;0;0 1.51 True ENSG00000130985 ENSG00000130985 HGNC:12469 VAPB gene VAPB Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adult proximal spinal muscular atrophy, autosomal dominant;dHMN/dSMA;Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Peripheral neuropathy;HP:0009830 15372378;32162544;28993872;28173107;26566915 False 3 100;0;0 1.51 True ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 Peripheral neuropathy;HP:0009830 25125609;25878907;32165109 False 3 50;50;0 1.51 True Other ENSG00000165280 ENSG00000165280 HGNC:12666 VRK1 gene VRK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Peripheral neuropathy;HP:0009830 31560180;32242460;31178479;31837156;30847374 False 3 100;0;0 1.51 True ENSG00000100749 ENSG00000100749 HGNC:12718 VWA1 gene VWA1 Expert Review Green;Literature Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary motor neuropathy Peripheral neuropathy;HP:0009830 33459760;33693694;33559681 False 3 0;0;0 1.51 True ENSG00000179403 ENSG00000179403 HGNC:30910 WNK1 gene WNK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN/SFN;Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300;MONDO:0024309 Peripheral neuropathy;HP:0009830 15060842;15911806;15455397;16534117 False 3 100;0;0 1.51 True ENSG00000060237 ENSG00000060237 HGNC:14540 YARS gene YARS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT - isolated Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323;MONDO:0012012 Peripheral neuropathy;HP:0009830 16429158;24354524;31587308;26725087 False 3 100;0;0 1.51 True ENSG00000134684 ENSG00000134684 HGNC:12840