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 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 20045102;26032230, 26392352 False 3 86;14;0 3.83 False ENSG00000090861 ENSG00000090861 HGNC:20 ABCA1 gene ABCA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal pain, paresthesias, anaesthesia;Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly;Tangier disease, 205400 29582519 False 3 33;67;0 3.83 False ENSG00000165029 ENSG00000165029 HGNC:29 ACOX1 gene ACOX1 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitchell syndrome, MIM# 618960 32169171 False 3 100;0;0 3.83 False ENSG00000161533 ENSG00000161533 HGNC:119 AIFM1 gene AIFM1 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder X-LINKED: hemizygous mutation in males, biallelic mutations in females Cowchock syndrome, OMIM:310490;Combined oxidative phosphorylation deficiency 6, OMIM:300816 3856385 False 3 67;33;0 3.83 False ENSG00000156709 ENSG00000156709 HGNC:8768 ATL1 gene ATL1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type ID, 613708 21194679 False 3 86;14;0 3.83 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATP1A1 gene ATP1A1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 29499166 False 3 100;0;0 3.83 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP7A gene ATP7A Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder X-LINKED: hemizygous mutation in males, biallelic mutations in females Hereditary Neuropathies 20170900 False 3 86;14;0 3.83 False ENSG00000165240 ENSG00000165240 HGNC:869 BICD2 gene BICD2 Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 23664116 False 3 83;17;0 3.83 False ENSG00000185963 ENSG00000185963 HGNC:17208 BSCL2 gene BSCL2 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VC, OMIM:619112 26392352 False 3 86;14;0 3.83 False ENSG00000168000 ENSG00000168000 HGNC:15832 C1orf194 gene C1orf194 Expert Review Green;Literature Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, intermediate or demyelinating 31199454;32592472 False 3 50;50;0 3.83 False ENSG00000179902 ENSG00000179902 HGNC:32331 CHCHD10 gene CHCHD10 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, Jokela type: 615048 25428574 False 3 80;20;0 3.83 False ENSG00000250479 ENSG00000250479 HGNC:15559 COX20 gene COX20 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 33751098;30656193;24202787 False 3 100;0;0 3.83 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate D, 616039 26302975;25152455 False 3 83;17;0 3.83 False ENSG00000111775 ENSG00000111775 HGNC:2277 CPOX gene CPOX Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Coproporphyria, 121300;Harderoporphyria, 121300;Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP False 3 100;0;0 3.83 False ENSG00000080819 ENSG00000080819 HGNC:2321 CYP27A1 gene CYP27A1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal SNCV described in a minority of patients;Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy;Cerebrotendinous xanthomatosis, 213700 22878431 False 3 100;0;0 3.83 False ENSG00000135929 ENSG00000135929 HGNC:2605 DCTN1 gene DCTN1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Perry syndrome, 168605;{Amyotrophic lateral sclerosis, susceptibility to}, 105400;Neuropathy, distal hereditary motor, type VIIB 607641 24627108;27025386;28251916 False 3 83;0;17 3.83 False ENSG00000204843 ENSG00000204843 HGNC:2711 DNAJB2 gene DNAJB2 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies 26752306;25274842 False 3 50;50;0 3.83 False ENSG00000135924 ENSG00000135924 HGNC:5228 DNM2 gene DNM2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, dominant intermediate B, 606482;Lethal congenital contracture syndrome 5, 615368;Charcot Marie Tooth disease, axonal, type 2M, 606482;Myopathy, centronuclear, 160150;Charcot-Marie-Tooth, Intermediate 15731758 False 3 86;14;0 3.83 False ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT1 gene DNMT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, Deafness, and Sensory Neuropathy;Neuropathy, hereditary sensory, type IE, 614116 21532572 False 3 83;17;0 3.83 False ENSG00000130816 ENSG00000130816 HGNC:2976 DRP2 gene DRP2 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder X-LINKED: hemizygous mutation in males, biallelic mutations in females 11430802;22764250;26227883;29473052;31217940 False 3 57;29;14 3.83 False ENSG00000102385 ENSG00000102385 HGNC:3032 DST gene DST Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Hereditary Sensory and Autonomic Neuropathy, Type VI;?Neuropathy, hereditary sensory and autonomic, type VI 30371979;28468842 False 3 60;0;40 3.83 False ENSG00000151914 ENSG00000151914 HGNC:1090 DYNC1H1 gene DYNC1H1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 13, 614563;Spinal muscular atrophy, lower extremity predominant, AD, 158600;Charcot Marie Tooth disease, axonal, type 20, 614228 21820100;26392352 False 3 86;14;0 3.83 False ENSG00000197102 ENSG00000197102 HGNC:2961 EGR2 gene EGR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth, Type 1;Charcot Marie Tooth disease, type 1D, 607678 9537424 False 3 86;14;0 3.83 False ENSG00000122877 ENSG00000122877 HGNC:3239 ELP1 gene ELP1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, OMIM:223900 26392352 False 3 83;17;0 3.83 False ENSG00000070061 ENSG00000070061 HGNC:5959 FBLN5 gene FBLN5 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764;Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895 False 3 75;25;0 3.83 False ENSG00000140092 ENSG00000140092 HGNC:3602 FGD4 gene FGD4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4H, 609311;Charcot-Marie-Tooth, Type 4 15744041;17564959 False 3 86;14;0 3.83 False ENSG00000139132 ENSG00000139132 HGNC:19125 FIG4 gene FIG4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 11 OMIM:612577;amyotrophic lateral sclerosis type 11 MONDO:0012945;Charcot-Marie-Tooth disease, type 4J, OMIM:611228;Charcot-Marie-Tooth disease type 4J MONDO:0012640;Yunis Varon syndrome OMIM:216340;Yunis-Varon syndrome MONDO:0008995 17572665;19118816;23888880;21705420 False 3 88;12;0 3.83 False ENSG00000112367 ENSG00000112367 HGNC:16873 GARS gene GARS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type V, 600794;Charcot Marie Tooth disease, type 2D, 601472 29648643 False 3 86;14;0 3.83 False ENSG00000106105 ENSG00000106105 HGNC:4162 GBF1 gene GBF1 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483 32937143 False 3 100;0;0 3.83 False ENSG00000107862 ENSG00000107862 HGNC:4181 GDAP1 gene GDAP1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 2937239;11743579 False 3 86;14;0 3.83 False ENSG00000104381 ENSG00000104381 HGNC:15968 GJB1 gene GJB1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth, X-linked;Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 8266101 False 3 86;14;0 3.83 False ENSG00000169562 ENSG00000169562 HGNC:4283 GNB4 gene GNB4 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate F, 615185 27908631;23434117;28642160 False 3 83;17;0 3.83 False ENSG00000114450 ENSG00000114450 HGNC:20731 GSN gene GSN Expert Review Green;Literature Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, OMIM:105120;cranial neuropathy;peripheral neuropathy;cutis laxa;cardiomyopathy, MONDO:0004994;arrhythmia 33499149;26339870 False 3 100;0;0 3.83 False ENSG00000148180 ENSG00000148180 HGNC:4620 HARS gene HARS Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625 False 3 80;20;0 3.83 False ENSG00000170445 ENSG00000170445 HGNC:4816 HEXA gene HEXA Expert Review Green;Literature Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease, OMIM:272800;Late-onset Tay-Sachs disease 18642377;24327357;28739864 False 3 100;0;0 3.83 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Literature Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 2795083;17015493;20472204;20798201;31512525;34856081 False 3 100;0;0 3.83 False ENSG00000049860 ENSG00000049860 HGNC:4879 HINT1 gene HINT1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal False 3 80;20;0 3.83 False ENSG00000169567 ENSG00000169567 HGNC:4912 HK1 gene HK1 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285 False 3 80;20;0 3.83 False ENSG00000156515 ENSG00000156515 HGNC:4922 HMBS gene HMBS Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, OMIM:76000;Porphyria, acute intermittent, nonerythroid variant, OMIM:176000;Leukoencephalopathy, HP:0002352;hereditary peripheral neuropathy, MONDO:0020127 27558376;34089223 False 3 100;0;0 3.83 False ENSG00000256269 ENSG00000256269 HGNC:4982 HSPB1 gene HSPB1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, axonal, type 2F, 606595;Neuropathy, distal hereditary motor, type IIB, 608634 15122254;28379183 False 3 86;14;0 3.83 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type IIA, 158590;Charcot Marie Tooth disease, axonal, type 2L, 608673 28780615;23389032 False 3 86;14;0 3.83 False ENSG00000152137 ENSG00000152137 HGNC:30171 IGHMBP2 gene IGHMBP2 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2S 616155;Neuronopathy, distal hereditary motor, type VI, 604320 26392352;34726235;36413117 False 3 86;14;0 3.83 False ENSG00000132740 ENSG00000132740 HGNC:5542 INF2 gene INF2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate E, 614455 False 3 80;20;0 3.83 False ENSG00000203485 ENSG00000203485 HGNC:23791 KIF1A gene KIF1A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy, hereditary sensory, type IIC, OMIM:614213;Spastic paraplegia 30, autosomal dominant, OMIM:610357;Spastic paraplegia 30, autosomal recessive, OMIM:610357;NESCAV syndrome, OMIM:614255 False 3 80;20;0 3.83 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF5A gene KIF5A Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;Spastic paraplegia 10, autosomal dominant False 3 80;20;0 3.83 False ENSG00000155980 ENSG00000155980 HGNC:6323 LITAF gene LITAF Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 1C, 601098 28211240 False 3 86;14;0 3.83 False ENSG00000189067 ENSG00000189067 HGNC:16841 LMNA gene LMNA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Emery Dreifuss muscular dystrophy 3, AR, 181350;Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001;Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112;Cardiomyopathy, dilated, 1A, 115200;Lipodystrophy, familial partial, 2, 151660;Emery Dreifuss muscular dystrophy 2, AD, 181350;Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670;Charcot Marie Tooth disease, type 2B1, 605588 11799477 False 3 86;14;0 3.83 False ENSG00000160789 ENSG00000160789 HGNC:6636 LRSAM1 gene LRSAM1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Toothe disease, axonal, type 2P, 614436 22781092;28335037 False 3 83;17;0 3.83 False ENSG00000148356 ENSG00000148356 HGNC:25135 MAG gene MAG Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 3 60;40;0 3.83 False ENSG00000105695 ENSG00000105695 HGNC:6783 MCM3AP gene MCM3AP Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 28633435;32202298 False 3 100;0;0 3.83 False ENSG00000160294 ENSG00000160294 HGNC:6946 MFN2 gene MFN2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 False 3 86;14;0 3.83 False ENSG00000116688 ENSG00000116688 HGNC:16877 MME gene MME Expert Review Green;London North GLH;NHS GMS;Other Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017 26991897;27588448;33144514 False 3 80;20;0 3.83 False ENSG00000196549 ENSG00000196549 HGNC:7154 MORC2 gene MORC2 Expert Review Green;Literature;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2Z False 3 67;33;0 3.83 False FALSE ENSG00000133422 ENSG00000133422 HGNC:23573 MPV17 gene MPV17 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) False 3 75;25;0 3.83 False ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, congenital hypomyelinating, 605253;Dejerine Sottas disease, 145900;Charcot Marie Tooth disease, dominant intermediate D, 607791;Roussy Levy syndrome, 180800;Charcot Marie Tooth disease, type 2J, 607736;Charcot Marie Tooth disease, type 1B, 118200;Charcot Marie Tooth disease, type 2I, 607677 False 3 86;14;0 3.83 False ENSG00000158887 ENSG00000158887 HGNC:7225 MT-ATP6 gene MT-ATP6 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MITOCHONDRIAL False 3 75;25;0 3.83 False ENSG00000198899 ENSG00000198899 HGNC:7414 MTMR2 gene MTMR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, 601382 10802647;28509084 False 3 86;14;0 3.83 False ENSG00000087053 ENSG00000087053 HGNC:7450 MYH14 gene MYH14 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 21480433;27875632;30373780;31231018;35274842 False 3 57;14;29 3.83 False ENSG00000105357 ENSG00000105357 HGNC:23212 NDRG1 gene NDRG1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4D, 601455 10831399;28776325 False 3 86;14;0 3.83 False ENSG00000104419 ENSG00000104419 HGNC:7679 NEFH gene NEFH Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 False 3 100;0;0 3.83 False ENSG00000100285 ENSG00000100285 HGNC:7737 NEFL gene NEFL Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, dominant intermediate G, 617882;Charcot Marie Tooth disease, type 1F, 607734;Charcot Marie Tooth disease, type 2E, 607684 10841809;23618875 False 3 86;14;0 3.83 False ENSG00000104725 ENSG00000277586 HGNC:7739 NGF gene NGF Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type V, 608654;Hereditary Sensory and Autonomic Neuropathy, Type V 14976160;1317267 False 3 86;14;0 3.83 False ENSG00000134259 ENSG00000134259 HGNC:7808 NTRK1 gene NTRK1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Insensitivity to pain, congenital, with anhidrosis, OMIM:256800 28940190 False 3 75;25;0 3.83 False ENSG00000198400 ENSG00000198400 HGNC:8031 OPA1 gene OPA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy plus syndrome, OMIM:125250;Behr syndrome, OMIM:210000 16240368;18065439;18158317;21112924;20157015;25012220;25146916 False 3 67;33;0 3.83 False ENSG00000198836 ENSG00000198836 HGNC:8140 PDK3 gene PDK3 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder 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, 300905 23297365;26801680;27388934;28902413;32504000;34387338 False 3 50;38;12 3.83 False ENSG00000067992 ENSG00000067992 HGNC:8811 PIGB gene PIGB Expert Review Green;Literature Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, OMIM:618580 31256876 False 3 100;0;0 3.83 False ENSG00000069943 ENSG00000069943 HGNC:8959 PLEKHG5 gene PLEKHG5 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 4, 611067;Charcot Marie Tooth disease, recessive intermediate C, 615376 23844677;17564964 False 3 83;17;0 3.83 False ENSG00000171680 ENSG00000171680 HGNC:29105 PMP2 gene PMP2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 False 3 100;0;0 3.83 False ENSG00000147588 ENSG00000147588 HGNC:9117 PMP22 gene PMP22 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dejerine Sottas disease, 145900;Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800;Neuropathy, recurrent, with pressure palsies, 162500;Charcot Marie Tooth disease, type 1A, 118220;Neuropathy, inflammatory demyelinating, 139393 False 3 86;14;0 3.83 False ENSG00000109099 ENSG00000109099 HGNC:9118 PNKP gene PNKP Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy;Microcephaly, seizures, and developmental delay, 613402;Ataxia-oculomotor apraxia 4, 616267 30039206;27066567 False 3 75;25;0 3.83 False ENSG00000039650 ENSG00000039650 HGNC:9154 POLR3B gene POLR3B Expert Review Green;Literature Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted POLR3B-related neurodevelopmental disorder;Ataxia, spasticity, and demyelinating neuropathy 33417887 False 3 100;0;0 3.83 False ENSG00000013503 ENSG00000013503 HGNC:30348 PPOX gene PPOX Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria variegata, 176200;Skin photosensitivity. Acute episodes similar to AIP 8290408;10870850;11286631 False 3 100;0;0 3.83 False ENSG00000143224 ENSG00000143224 HGNC:9280 PRDM12 gene PRDM12 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488;congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 False 3 75;25;0 3.83 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRPS1 gene PRPS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder 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 recessive, 5, 311070 17701900;24285972 False 3 86;14;0 3.83 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRX gene PRX Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4F, OMIM:614895;Dejerine-Sottas disease, OMIM:145900 10848494;11133365;11157804;12112076;25628743;26059842;35810435;37470010 False 3 86;14;0 3.83 False ENSG00000105227 ENSG00000105227 HGNC:13797 RAB7A gene RAB7A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 2B, 600882 26791407 False 3 86;14;0 3.83 False ENSG00000075785 ENSG00000075785 HGNC:9788 REEP1 gene REEP1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 31, autosomal dominant 610250;?Neuronopathy, distal hereditary motor, type VB, 614751;Cardiomyopathy 19034539;22703882 False 3 86;14;0 3.83 False ENSG00000068615 ENSG00000068615 HGNC:25786 RETREG1 gene RETREG1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Hereditary Sensory and Autonomic Neuropathy, Type II;Neuropathy, hereditary sensory and autonomic, type IIB, 613115 30373780;19838196 False 3 71;14;14 3.83 False ENSG00000154153 ENSG00000154153 HGNC:25964 SBF1 gene SBF1 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3, 615284 23749797;28005197;21210780;24799518 False 3 83;17;0 3.83 False ENSG00000100241 ENSG00000100241 HGNC:10542 SBF2 gene SBF2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4B2, 604563 17855448;12554688 False 3 86;14;0 3.83 False ENSG00000133812 ENSG00000133812 HGNC:2135 SCN10A gene SCN10A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 2, 615551 False 3 100;0;0 3.83 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN11A gene SCN11A Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CONGENITAL INABILITY TO EXPERIENCE PAIN;Neuropathy, hereditary sensory and autonomic, type VII, 615548;Episodic pain syndrome, familial, 3, 615552 False 3 80;20;0 3.83 False ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary Neuropathies 26392352 False 3 83;17;0 3.83 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCO2 gene SCO2 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease type 4, MONDO:0018995;Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377 29351582;31844624;35112411 False 3 67;33;0 3.83 False ENSG00000130489 ENSG00000130489 HGNC:10604 SEPT9 gene SEPT9 Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophy, hereditary neuralgic;Neuralgic amyotrophy 16186812;19451530 False 3 83;17;0 3.83 False ENSG00000184640 ENSG00000184640 HGNC:7323 SETX gene SETX Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 25025039;25802885 False 3 80;0;20 3.83 False ENSG00000107290 ENSG00000107290 HGNC:445 SH3TC2 gene SH3TC2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C, OMIM:601596;Mononeuropathy of the median nerve, mild, OMIM:613353 19805030 False 3 86;14;0 3.83 False ENSG00000169247 ENSG00000169247 HGNC:29427 SIGMAR1 gene SIGMAR1 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion;PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile;PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.;PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls False 3 75;25;0 3.83 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC25A46 gene SLC25A46 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505;Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260 26168012;27430653;28376086;28934388;30178502 False 3 75;25;0 3.83 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC52A2 gene SLC52A2 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867;Hereditary sensory and autonomic neuropathy, MONDO:0015364 22740598;22864630;23243084;24253200;30343981;30377535;31868069;32909658;35608644;36186484 False 3 83;17;0 3.83 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Fazio-Londe disease;dHMN;Brown-Vialetto-Van Laere syndrome 1 20206331 False 3 50;50;0 3.83 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A6 gene SLC5A6 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 35013551;27904971;31392107;31754459;23104561;29669219 False 3 100;0;0 3.83 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC5A7 gene SLC5A7 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type VIIA 23141292;29782645 False 3 80;20;0 3.83 False ENSG00000115665 ENSG00000115665 HGNC:14025 SMN1 gene SMN1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-3, OMIM:253400;Spinal muscular atrophy-4, OMIM:271150;Spinal muscular atrophy-2, OMIM:253550;Spinal muscular atrophy-1, OMIM:253300 32644125;32644120 False 3 80;20;0 3.83 False ENSG00000172062 ENSG00000172062 HGNC:11117 SORD gene SORD Expert Review Green;Literature Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912;sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055 32367058;33314640;33397963 False 3 100;0;0 3.83 False ENSG00000140263 ENSG00000140263 HGNC:11184 SPG11 gene SPG11 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;axonal Charcot-Marie-Tooth disease type 2X 26556829 False 3 75;25;0 3.83 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPTLC1 gene SPTLC1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Sensory and Autonomic Neuropathy, Type II;Neuropathy, hereditary sensory and autonomic, type IA, 162400 20097765;16216550 False 3 86;14;0 3.83 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Sensory and Autonomic Neuropathy, Type IC;Neuropathy, hereditary sensory and autonomic, type IC, 613640 20920666 False 3 86;14;0 3.83 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100596 ENSG00000100596 HGNC:11278 TECPR2 gene TECPR2 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 PubMed: 33847017 False 3 100;0;0 3.83 False ENSG00000196663 ENSG00000196663 HGNC:19957 TFG gene TFG Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy or pain disorder BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484;Spastic paraplegia 57, autosomal recessive, OMIM:615658 17764830;17906970;21836032;22883144;23553329;25098539;23479643;27492651;27601211;29971521;30467354 False 3 80;20;0 3.83 False ENSG00000114354 ENSG00000114354 HGNC:11758 TRIM2 gene TRIM2 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2R, 615490 25893792;18687884;23562820 False 3 60;40;0 3.83 False ENSG00000109654 ENSG00000109654 HGNC:15974 TRPV4 gene TRPV4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary motor and sensory neuropathy, type IIc, 606071 20037586 False 3 86;14;0 3.83 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000111199 ENSG00000111199 HGNC:18083 TTR gene TTR Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related, 105210;FAP;Cardiomyopathy 31111153;31131842;30878017;30120737;31118583 False 3 80;20;0 3.83 False ENSG00000118271 ENSG00000118271 HGNC:12405 UBA1 gene UBA1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830 18179898;23518311;26028276;27699224;29034082;31932168;32181232 False 3 100;0;0 3.83 False ENSG00000130985 ENSG00000130985 HGNC:12469 VAPB gene VAPB Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980;Amyotrophic lateral sclerosis 8, OMIM:608627 15372378;20940299;26566915;28173107;28993872;32162544 False 3 100;0;0 3.83 False ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 2Y, OMIM:616687 26574898;25878907;25125609;32165109 False 3 83;0;17 3.83 False ENSG00000165280 ENSG00000165280 HGNC:12666 VRK1 gene VRK1 Expert list;Expert Review Green;London North GLH Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Distal hereditary motor neuropathy 30847374 False 3 50;50;0 3.83 False ENSG00000100749 ENSG00000100749 HGNC:12718 VWA1 gene VWA1 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216;neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 33559681;33459760;33015062 False 3 100;0;0 3.83 False ENSG00000179403 ENSG00000179403 HGNC:30910 WARS gene WARS Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuronopathy, distal hereditary motor, type IX, 617721 28369220 False 3 100;0;0 3.83 False ENSG00000140105 ENSG00000140105 HGNC:12729 WNK1 gene WNK1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 15060842 False 3 86;14;0 3.83 False ENSG00000060237 ENSG00000060237 HGNC:14540 YARS gene YARS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, dominant intermediate C, 608323 19561293;16429158 False 3 86;14;0 3.83 False ENSG00000134684 ENSG00000134684 HGNC:12840 AR_CAG str AR NHS GMS;Expert Review Green;Expert Review Hereditary neuropathy or pain disorder X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 3 0;100;0 3.83 False ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 ISCA-37436-Gain region ClinGen;Expert Review Green Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 20301384 False 3 100;0;0 3.83 False 17 14194598 15519638 3 60 cnv_gain 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain ISCA-37436-Loss region ClinGen;Expert Review Green Hereditary neuropathy or pain disorder MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 20301566 False 3 100;0;0 3.83 False 17 14194598 15519638 3 60 cnv_loss 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss