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 AAAS gene AAAS Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 11062474;18628786;34796249 False 3 100;0;0 7.45 False ENSG00000094914 ENSG00000094914 HGNC:13666 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 Neurology 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 7.45 False ENSG00000090861 ENSG00000090861 HGNC:20 ABCA1 gene ABCA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal pain, paresthesias, anaesthesia;Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly;Tangier disease, 205400 29582519 False 3 33;67;0 7.45 False ENSG00000165029 ENSG00000165029 HGNC:29 ABCD1 gene ABCD1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100 https://doi.org/10.1093/brain/awt361 False 3 100;0;0 7.45 False ENSG00000101986 ENSG00000101986 HGNC:61 ABHD12 gene ABHD12 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with cerebellar atrophy,612674;Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia 20797687;29571850 False 3 75;25;0 7.45 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACOX1 gene ACOX1 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitchell syndrome, MIM# 618960 32169171 False 3 100;0;0 7.45 False ENSG00000161533 ENSG00000161533 HGNC:119 ADA2 gene ADA2 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688;vasculitis due to ADA2 deficiency, MONDO:0014306 34210540:37584090 False 3 100;0;0 7.45 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADCY6 gene ADCY6 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 8, OMIM:616287;lethal congenital contracture syndrome 8, MONDO:0014570 31846058;26257172;24319099 False 3 100;0;0 7.45 False ENSG00000174233 ENSG00000174233 HGNC:237 ADGRG6 gene ADGRG6 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9, OMIM:616503;lethal congenital contracture syndrome 9, MONDO:0014670 26004201 False 3 100;0;0 7.45 False ENSG00000112414 ENSG00000112414 HGNC:13841 ADPRHL2 gene ADPRHL2 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MONDO:0100095 30401461;30100084 False 3 100;0;0 7.45 False ENSG00000116863 ENSG00000116863 HGNC:21304 AGTPBP1 gene AGTPBP1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 30420557 False 3 75;25;0 7.45 False ENSG00000135049 ENSG00000135049 HGNC:17258 AGXT gene AGXT Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, 259900;Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing) 25363903;4701948 False 3 75;25;0 7.45 False ENSG00000172482 ENSG00000172482 HGNC:341 AIFM1 gene AIFM1 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000156709 ENSG00000156709 HGNC:8768 AMACR gene AMACR Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, OMIM:614307;alpha-methylacyl-CoA racemase deficiency, MONDO:0013681 21576695;10655068;20821052;18032455;15249642 False 3 100;0;0 7.45 False ENSG00000242110 ENSG00000242110 HGNC:451 AP1S1 gene AP1S1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome, OMIM:609313;Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma 19057675;23423674 False 3 50;50;0 7.45 False ENSG00000106367 ENSG00000106367 HGNC:559 AP5Z1 gene AP5Z1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, OMIM:613647;hereditary spastic paraplegia 48, MONDO:0013342 26085577 False 3 50;50;0 7.45 False ENSG00000242802 ENSG00000242802 HGNC:22197 APOA1 gene APOA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy 23730806 False 3 75;25;0 7.45 False ENSG00000118137 ENSG00000118137 HGNC:600 APTX gene APTX Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, OMIM:208920;ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MONDO:0008842 11176957;11586299;12196655;15852392 False 3 67;33;0 7.45 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARHGAP19 gene ARHGAP19 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal motor peripheral neuropathy, MONDO:0002316 41086021 False 3 100;0;0 7.45 False ENSG00000213390 ENSG00000213390 HGNC:23724 ARL6IP1 gene ARL6IP1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 61, autosomal recessive, 615685;Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy 24482476 False 3 67;33;0 7.45 False ENSG00000170540 ENSG00000170540 HGNC:697 ARSA gene ARSA Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, OMIM:250100;metachromatic leukodystrophy, juvenile form, MONDO:0009591 1670590;9600244;1673291;1684088;31684987 False 3 67;33;0 7.45 False ENSG00000100299 ENSG00000100299 HGNC:713 ASAH1 gene ASAH1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045;Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950 24164096: 12571787: 534421: 22703880 False 3 100;0;0 7.45 False ENSG00000104763 ENSG00000104763 HGNC:735 ATAD3A gene ATAD3A Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Harel-Yoon syndrome, MONDO:0014958 27640307 False 3 100;0;0 7.45 False Other ENSG00000197785 ENSG00000197785 HGNC:25567 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type ID, 613708 21194679 False 3 86;14;0 7.45 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATL3 gene ATL3 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory, type IF, OMIM:615632;neuropathy, hereditary sensory, type 1F, MONDO:0014286 24459106;24736309 False 3 67;33;0 7.45 False ENSG00000184743 ENSG00000184743 HGNC:24526 ATM gene ATM Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 50;33;17 7.45 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 78, autosomal recessive, OMIM:617225;Kufor-Rakeb syndrome, OMIM:606693;Kufor-Rakeb syndrome, MONDO:0011706;autosomal recessive spastic paraplegia type 78, MONDO:0014975 28137957: False 3 100;0;0 7.45 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A1 gene ATP1A1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 29499166 False 3 100;0;0 7.45 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 Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hereditary Neuropathies 20170900 False 3 86;14;0 7.45 False ENSG00000165240 ENSG00000165240 HGNC:869 B4GALNT1 gene B4GALNT1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy;Spastic paraplegia 26, autosomal recessive, 609195;SPG26 23746551 False 3 75;25;0 7.45 False ENSG00000135454 ENSG00000135454 HGNC:4117 BAG3 gene BAG3 Emory Genetics Laboratory;Expert Review Green;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6 612954;Cardiomyopathy, dilated, 1HH, 613881 22734908;28754666 False 3 50;33;17 7.45 False ENSG00000151929 ENSG00000151929 HGNC:939 BCKDHB gene BCKDHB Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib, 248600;Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath;Maple Syrup Urine Disease 18855118;11180212 False 3 75;25;0 7.45 False ENSG00000083123 ENSG00000083123 HGNC:987 BICD2 gene BICD2 Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 23664116 False 3 83;17;0 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VC, OMIM:619112 26392352 False 3 86;14;0 7.45 False ENSG00000168000 ENSG00000168000 HGNC:15832 C12orf65 gene C12orf65 Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035 24198383;28091420 False 3 83;17;0 7.45 False ENSG00000130921 ENSG00000130921 HGNC:26784 C1orf194 gene C1orf194 Expert Review Green;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, intermediate or demyelinating 31199454;32592472 False 3 50;50;0 7.45 False ENSG00000179902 ENSG00000179902 HGNC:32331 CADM3 gene CADM3 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2FF, OMIM:619519 33889941;38074074 False 3 67;33;0 7.45 False ENSG00000162706 ENSG00000162706 HGNC:17601 CAPN1 gene CAPN1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal autosomal recessive spastic paraplegia type 76, MONDO:0014827;Spastic paraplegia 76, autosomal recessive, OMIM:616907 27153400 False 3 100;0;0 7.45 False ENSG00000014216 ENSG00000014216 HGNC:1476 CD59 gene CD59 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300;primary CD59 deficiency, MONDO:0012858 24382084;23149847 False 3 67;33;0 7.45 False ENSG00000085063 ENSG00000085063 HGNC:1689 CHCHD10 gene CHCHD10 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, Jokela type: 615048 25428574 False 3 80;20;0 7.45 False ENSG00000250479 ENSG00000250479 HGNC:15559 CLP1 gene CLP1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 10 OMIM:615803;Pontocerebellar hypoplasia type 10 MONDO:0014349 24766809 False 3 100;0;0 7.45 False ENSG00000172409 ENSG00000172409 HGNC:16999 CNTNAP1 gene CNTNAP1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal neuropathy, congenital hypomyelinating, 3, MONDO:0020766;Hypomyelinating neuropathy, congenital, 3, OMIM:618186 False 3 75;25;0 7.45 False ENSG00000108797 ENSG00000108797 HGNC:8011 COA7 gene COA7 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 2971817 False 3 67;33;0 7.45 False ENSG00000162377 ENSG00000162377 HGNC:25716 COQ7 gene COQ7 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402 36454683;36758993;37077559 False 3 100;0;0 7.45 False ENSG00000167186 ENSG00000167186 HGNC:2244 COX18 gene COX18 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970;Charcot-Marie-Tooth disease, MONDO:0015626 37468577;40830826 False 3 100;0;0 7.45 False ENSG00000163626 ENSG00000163626 HGNC:26801 COX20 gene COX20 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 33751098;30656193;24202787 False 3 100;0;0 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate D, 616039 26302975;25152455 False 3 83;17;0 7.45 False ENSG00000111775 ENSG00000111775 HGNC:2277 CPOX gene CPOX Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892 8008008;11074238;11309681;21103937;24353603;24156084;35228944;35584894;38940544 False 3 100;0;0 7.45 False ENSG00000080819 ENSG00000080819 HGNC:2321 CTDP1 gene CTDP1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168;congenital cataracts-facial dysmorphism-neuropathy syndrome, MONDO:0011402 16194727;24690360;14517542 False 3 83;17;0 7.45 False ENSG00000060069 ENSG00000060069 HGNC:2498 CYP27A1 gene CYP27A1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, OMIM:615030;hereditary spastic paraplegia 56, MONDO:0014015 23176821;33107650;34546337 False 3 100;0;0 7.45 False ENSG00000155016 ENSG00000155016 HGNC:20582 DARS2 gene DARS2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105;leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0012622 28334938;38790244;22677571;38549004 False 3 67;33;0 7.45 False ENSG00000117593 ENSG00000117593 HGNC:25538 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 Neurology 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 7.45 False ENSG00000204843 ENSG00000204843 HGNC:2711 DHH gene DHH Expert Review Green;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal 46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080;46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766 29471294;11891836;11017805;25927242;33107133 False 3 40;40;20 7.45 False ENSG00000139549 ENSG00000139549 HGNC:2865 DHTKD1 gene DHTKD1 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025 23141294;28902413;29661920;34571524 False 3 25;25;50 7.45 False ENSG00000181192 ENSG00000181192 HGNC:23537 DHX9 gene DHX9 Expert Review Green;NHS GMS;Other Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 75, OMIM:620988 37467750 False 3 100;0;0 7.45 False ENSG00000135829 ENSG00000135829 HGNC:2750 DMXL2 gene DMXL2 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 81, OMIM:618663;developmental and epileptic encephalopathy, 81, MONDO:0032858 25248098;30237576;31688942 False 3 100;0;0 7.45 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNAJB2 gene DNAJB2 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies 26752306;25274842 False 3 50;50;0 7.45 False ENSG00000135924 ENSG00000135924 HGNC:5228 DNAJC3 gene DNAJC3 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 25466870;28940199;32738013;33486469;34654017 False 3 75;25;0 7.45 False ENSG00000102580 ENSG00000102580 HGNC:9439 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 Neurology 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 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, Deafness, and Sensory Neuropathy;Neuropathy, hereditary sensory, type IE, 614116 21532572 False 3 83;17;0 7.45 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 Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females 11430802;22764250;26227883;29473052;31217940 False 3 57;29;14 7.45 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 Neurology 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 7.45 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 Neurology 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 7.45 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 Neurology 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 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, OMIM:223900 26392352 False 3 83;17;0 7.45 False ENSG00000070061 ENSG00000070061 HGNC:5959 EMILIN1 gene EMILIN1 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, autosomal dominant 10, OMIM:620080 31978608;26462740;38963291 False 3 50;50;0 7.45 False ENSG00000138080 ENSG00000138080 HGNC:19880 ERCC6 gene ERCC6 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, OMIM:133540;Cockayne syndrome type 2, MONDO:0019570 25453614;9443879;10767341;9777763;18446857 False 3 67;33;0 7.45 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, OMIM:216400;Cockayne syndrome type 1, MONDO:0019569 7664335;9338586;21108394;14661080;15744458;25453614 False 3 67;33;0 7.45 False ENSG00000049167 ENSG00000049167 HGNC:3439 ETFDH gene ETFDH Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 30587156;26205240;32608139;26821934;0587156 False 3 67;33;0 7.45 False ENSG00000171503 ENSG00000171503 HGNC:3483 EXOSC3 gene EXOSC3 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678;pontocerebellar hypoplasia type 1B, MONDO:0013853 23564332;24524299;25149867;12548734 False 3 100;0;0 7.45 False ENSG00000107371 ENSG00000107371 HGNC:17944 FA2H gene FA2H Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, OMIM:612319;hereditary spastic paraplegia 35, MONDO:0012866 22146942;31135052 False 3 67;33;0 7.45 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAH gene FAH Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, OMIM:276700;tyrosinemia type I, MONDO:0010161 33598652 False 3 67;33;0 7.45 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM126A gene FAM126A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 5, OMIM:610532;hypomyelinating leukodystrophy 5, MONDO:0012514 16951682;17928815;23998934;21911699;33531944;22749724: False 3 67;33;0 7.45 False ENSG00000122591 ENSG00000122591 HGNC:24587 FBLN5 gene FBLN5 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000140092 ENSG00000140092 HGNC:3602 FDXR gene FDXR Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 37046037;30250212 False 3 100;0;0 7.45 False ENSG00000161513 ENSG00000161513 HGNC:3642 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 Neurology BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4H, 609311;Charcot-Marie-Tooth, Type 4 15744041;17564959 False 3 86;14;0 7.45 False ENSG00000139132 ENSG00000139132 HGNC:19125 FICD gene FICD Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 92, autosomal recessive, OMIM:620911 36136088 False 3 100;0;0 7.45 False ENSG00000198855 ENSG00000198855 HGNC:18416 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 Neurology 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 7.45 False ENSG00000112367 ENSG00000112367 HGNC:16873 FLVCR1 gene FLVCR1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033;posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 21070897;38405817;32822874;28766925;37469134 False 3 67;33;0 7.45 False ENSG00000162769 ENSG00000162769 HGNC:24682 FXN gene FXN Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 3 71;14;14 7.45 False ENSG00000165060 ENSG00000165060 HGNC:3951 GALC gene GALC Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 False 3 75;25;0 7.45 False ENSG00000054983 ENSG00000054983 HGNC:4115 GAN gene GAN Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, OMIM:256850 11062483;11053687;18595793;19231187;20949505;27852232;36866531 False 3 88;12;0 7.45 False ENSG00000261609 ENSG00000261609 HGNC:4137 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 Neurology 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 7.45 False ENSG00000106105 ENSG00000106105 HGNC:4162 GBA2 gene GBA2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy;Spastic paraplegia 46, autosomal recessive, 614409 23332916 False 3 75;25;0 7.45 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBF1 gene GBF1 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483 32937143 False 3 100;0;0 7.45 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 Neurology 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 7.45 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 Neurology 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 7.45 False ENSG00000169562 ENSG00000169562 HGNC:4283 GLA gene GLA Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, OMIM:301500;Fabry disease, cardiac variant, OMIM:301500;Fabry disease, MONDO:0010526 22428782 False 3 67;33;0 7.45 False ENSG00000102393 ENSG00000102393 HGNC:4296 GNB4 gene GNB4 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate F, 615185 27908631;23434117;28642160 False 3 83;17;0 7.45 False ENSG00000114450 ENSG00000114450 HGNC:20731 GSN gene GSN Expert Review Green;Literature Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000148180 ENSG00000148180 HGNC:4620 HADHA gene HADHA Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 1, OMIM:609015 23868323;32897397 False 3 67;17;17 7.45 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2, OMIM: 620300 24664533;28685493;28649548;35235001;37388542 False 3 67;17;17 7.45 False ENSG00000138029 ENSG00000138029 HGNC:4803 HARS gene HARS Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625 False 3 80;20;0 7.45 False ENSG00000170445 ENSG00000170445 HGNC:4816 HEXA gene HEXA Expert Review Green;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease, OMIM:272800;Late-onset Tay-Sachs disease 18642377;24327357;28739864 False 3 100;0;0 7.45 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 2795083;17015493;20472204;20798201;31512525;34856081 False 3 100;0;0 7.45 False ENSG00000049860 ENSG00000049860 HGNC:4879 HINT1 gene HINT1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 3 80;20;0 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285 False 3 80;20;0 7.45 False ENSG00000156515 ENSG00000156515 HGNC:4922 HMBS gene HMBS Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Porphyria, acute intermittent, OMIM:76000;Porphyria, acute intermittent, nonerythroid variant, OMIM:176000;Leukoencephalopathy, HP:0002352;hereditary peripheral neuropathy, MONDO:0020127 27539938;38940544;35584894;14262853;1577472;15534187;31153822;14970743;34089223;27558376 False 3 100;0;0 7.45 False ENSG00000256269 ENSG00000256269 HGNC:4982 HPDL gene HPDL Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026;Spastic paraplegia 83, autosomal recessive, OMIM:619027;neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613;spastic paraplegia 83, autosomal recessive, MONDO:0033614 32707086 False 3 100;0;0 7.45 False ENSG00000186603 ENSG00000186603 HGNC:28242 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 Neurology 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 7.45 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 Neurology 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 7.45 False ENSG00000152137 ENSG00000152137 HGNC:30171 IARS2 gene IARS2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy;Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 28328135;30419932;25130867;30041933 False 3 75;25;0 7.45 False ENSG00000067704 ENSG00000067704 HGNC:29685 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 Neurology 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 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate E, 614455 False 3 80;20;0 7.45 False ENSG00000203485 ENSG00000203485 HGNC:23791 ITPR3 gene ITPR3 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111 32949214;24627108 False 3 67;33;0 7.45 False ENSG00000096433 ENSG00000096433 HGNC:6182 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 Neurology 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 7.45 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF5A gene KIF5A Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;Spastic paraplegia 10, autosomal dominant False 3 80;20;0 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 1C, 601098 28211240 False 3 86;14;0 7.45 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 Neurology 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 7.45 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 Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Toothe disease, axonal, type 2P, 614436 22781092;28335037 False 3 83;17;0 7.45 False ENSG00000148356 ENSG00000148356 HGNC:25135 LYST gene LYST Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, 214500;Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy 27669550 False 3 75;25;0 7.45 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAG gene MAG Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 3 60;40;0 7.45 False ENSG00000105695 ENSG00000105695 HGNC:6783 MCM3AP gene MCM3AP Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 28633435;32202298 False 3 100;0;0 7.45 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 Neurology 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 7.45 False ENSG00000116688 ENSG00000116688 HGNC:16877 MMACHC gene MMACHC Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Onset infancy to adulthood;Methylmalonic aciduria and homocystinuria, cblC type, 277400;thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12 20610126 False 3 75;25;0 7.45 False ENSG00000132763 ENSG00000132763 HGNC:24525 MME gene MME Expert Review Green;London North GLH;NHS GMS;Other Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017 26991897;27588448;33144514 False 3 80;20;0 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090 26497905;26659848 False 3 67;33;0 7.45 False FALSE ENSG00000133422 ENSG00000133422 HGNC:23573 MPV17 gene MPV17 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) False 3 75;25;0 7.45 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 Neurology 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 7.45 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 Neurology MITOCHONDRIAL False 3 75;25;0 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, 601382 10802647;28509084 False 3 86;14;0 7.45 False ENSG00000087053 ENSG00000087053 HGNC:7450 MTTP gene MTTP Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Abetalipoproteinemia, 200100 2991816 False 3 50;33;17 7.45 False ENSG00000138823 ENSG00000138823 HGNC:7467 MYH14 gene MYH14 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000105357 ENSG00000105357 HGNC:23212 NAGA gene NAGA Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, 609242;Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI 15136691 False 3 75;25;0 7.45 False ENSG00000198951 ENSG00000198951 HGNC:7631 NARS gene NARS Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 32738225;32788587 False 3 100;0;0 7.45 False ENSG00000134440 ENSG00000134440 HGNC:7643 NDC1 gene NDC1 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, OMIM:621328;neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MONDO:0979875 39003500 False 3 100;0;0 7.45 False ENSG00000058804 ENSG00000058804 HGNC:25525 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 Neurology BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4D, 601455 10831399;28776325 False 3 86;14;0 7.45 False ENSG00000104419 ENSG00000104419 HGNC:7679 NDUFS6 gene NDUFS6 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232;mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615 38459834;38549004;38217609 False 3 100;0;0 7.45 False ENSG00000145494 ENSG00000145494 HGNC:7713 NEFH gene NEFH Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 False 3 100;0;0 7.45 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 Neurology 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 7.45 False ENSG00000104725 ENSG00000277586 HGNC:7739 NEMF gene NEMF Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, OMIM:619099 32934225;33048237 False 3 100;0;0 7.45 False ENSG00000165525 ENSG00000165525 HGNC:10663 NFASC gene NFASC Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 30850329;31501903 False 3 100;0;0 7.45 False ENSG00000163531 ENSG00000163531 HGNC:29866 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 Neurology 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 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Insensitivity to pain, congenital, with anhidrosis, OMIM:256800 28940190 False 3 75;25;0 7.45 False ENSG00000198400 ENSG00000198400 HGNC:8031 NUDT2 gene NUDT2 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844 27431290;30059600;33058507;38141063 False 3 80;20;0 7.45 False ENSG00000164978 ENSG00000164978 HGNC:8049 OPA1 gene OPA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 3 with cataract, OMIM:165300;optic atrophy 3, MONDO:0008133 28050599;31119193 False 3 75;25;0 7.45 False ENSG00000125741 ENSG00000125741 HGNC:8142 PDHA1 gene PDHA1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency, OMIM:312170 20002125;33661577;36693417;38497591 False 3 67;17;17 7.45 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDK3 gene PDK3 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDXK gene PDXK Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 31187503;32522499 False 3 100;0;0 7.45 False ENSG00000160209 ENSG00000160209 HGNC:8819 PDYN gene PDYN Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 23, 610245;Cerebellar ataxia, sensory-motor axonal neuropathy 21035104 False 3 75;25;0 7.45 False ENSG00000101327 ENSG00000101327 HGNC:8820 PEX10 gene PEX10 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger), 614870;Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described;Peroxisome biogenesis disorder 6B, 614871 27230853;20695019 False 3 75;25;0 7.45 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX7 gene PEX7 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Refsum disease False 3 71;29;0 7.45 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Refsum disease, OMIM:266500 2433405;9326940;10767344;20301527 False 3 71;14;14 7.45 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIEZO2 gene PIEZO2 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, with impaired proprioception and touch, OMIM:617146 27653382;27843126;27974811 False 3 100;0;0 7.45 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGB gene PIGB Expert Review Green;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, OMIM:618580 31256876 False 3 100;0;0 7.45 False ENSG00000069943 ENSG00000069943 HGNC:8959 PIGG gene PIGG Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917;childhood-onset motor neuropathy 39444079 False 3 100;0;0 7.45 False ENSG00000174227 ENSG00000174227 HGNC:25985 PLA2G16 gene PLA2G16 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Associated with Lipodystrophy, familial partial, type 9, OMIM:620683;lipodystrophy, familial partial, type 9, MONDO:0958034 37919452 False 3 100;0;0 7.45 False ENSG00000176485 ENSG00000176485 HGNC:17825 PLA2G6 gene PLA2G6 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 2B, OMIM:610217;Infantile neuroaxonal dystrophy 1, OMIM:256600 16783378;18443314;25164370;27882168;29859652;30340910 False 3 100;0;0 7.45 False ENSG00000184381 ENSG00000184381 HGNC:9039 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 Neurology 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 7.45 False ENSG00000171680 ENSG00000171680 HGNC:29105 PLP1 gene PLP1 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hereditary Neuropathies False 3 67;17;17 7.45 False ENSG00000123560 ENSG00000123560 HGNC:9086 PMM2 gene PMM2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy;Congenital disorder of glycosylation, type Ia, 212065 9140401 False 3 75;25;0 7.45 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMP2 gene PMP2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 False 3 100;0;0 7.45 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 Neurology 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 7.45 False ENSG00000109099 ENSG00000109099 HGNC:9118 PNKP gene PNKP Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Childhood onset of slowly progressive spastic paraplegia;progressive distal motor neuropathy beginning in early through late adolescence 24355708 False 3 50;33;17 7.45 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPT1 gene PNPT1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 25, OMIM:608703;spinocerebellar ataxia type 25, MONDO:0012103 14705117;35411967;37935417;39899068;39924761 False 3 75;25;0 7.45 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459;Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640;Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 12975295;15534189;19752458;25281868;33791913;36703500;38975049 False 3 86;14;0 7.45 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694;Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications 28459997 False 3 75;25;0 7.45 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted POLR3B-related neurodevelopmental disorder;Ataxia, spasticity, and demyelinating neuropathy 33417887 False 3 100;0;0 7.45 False ENSG00000013503 ENSG00000013503 HGNC:30348 PPOX gene PPOX Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, childhood-onset, MONDO:0957577 8290408;10870850;11286631 False 3 100;0;0 7.45 False ENSG00000143224 ENSG00000143224 HGNC:9280 PRDM12 gene PRDM12 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRNP gene PRNP Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Creutzfeldt-Jakob disease, OMIM:123400;dementia;autonomic neuropathy;sensory neuropathy 27716661;24224623;26768678;31953922 False 3 60;0;40 7.45 False ENSG00000171867 ENSG00000171867 HGNC:9449 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 Neurology 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 7.45 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 Neurology 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 7.45 False ENSG00000105227 ENSG00000105227 HGNC:13797 PTRH2 gene PTRH2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 25572476;25558065;28328138;27129381;31057140;38874107;39176129 False 3 75;25;0 7.45 False ENSG00000141378 ENSG00000141378 HGNC:24265 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 2B, 600882 26791407 False 3 86;14;0 7.45 False ENSG00000075785 ENSG00000075785 HGNC:9788 RCC1 gene RCC1 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Severe, acute-onset axonal neuropathy following infection 40683276 False 3 67;33;0 7.45 False ENSG00000180198 ENSG00000180198 HGNC:1913 REEP1 gene REEP1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology 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 7.45 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 Neurology 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 7.45 False ENSG00000154153 ENSG00000154153 HGNC:25964 RTN2 gene RTN2 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal distal hereditary motor neuropathy, MONDO:0018894 38527963 False 3 100;0;0 7.45 False ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies False 3 80;20;0 7.45 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMD9L gene SAMD9L Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia-pancytopenia syndrome, OMIM:159550;ataxia-pancytopenia syndrome, MONDO:0008038 32808377;36553623;31053103;27259050;28202457 False 3 100;0;0 7.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000177409 ENSG00000177409 HGNC:1349 SARS gene SARS Expert Review;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary peripheral neuropathy, MONDO:0020127 36088542;37706277 False 3 100;0;0 7.45 False ENSG00000031698 ENSG00000031698 HGNC:10537 SBF1 gene SBF1 Expert Review;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3, 615284 23749797;28005197;21210780;24799518 False 3 83;17;0 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4B2, 604563 17855448;12554688 False 3 86;14;0 7.45 False ENSG00000133812 ENSG00000133812 HGNC:2135 SCARB2 gene SCARB2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure, 254900;Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure) 19597094;21670406 False 3 75;25;0 7.45 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCN10A gene SCN10A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 2, 615551 False 3 100;0;0 7.45 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 Neurology 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 7.45 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 Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary Neuropathies 26392352 False 3 83;17;0 7.45 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCO2 gene SCO2 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophy, hereditary neuralgic;Neuralgic amyotrophy 16186812;19451530 False 3 83;17;0 7.45 False ENSG00000184640 ENSG00000184640 HGNC:7323 SETX gene SETX Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 25025039;25802885 False 3 80;0;20 7.45 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 Neurology 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 7.45 False ENSG00000169247 ENSG00000169247 HGNC:29427 SIGMAR1 gene SIGMAR1 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC12A6 gene SLC12A6 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 Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068;Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000 12368912;31439721;27485015;16606917;17893295;21628467;36542484;35733399;33323309 False 3 90;10;0 7.45 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC25A19 gene SLC25A19 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 19798730 False 3 75;25;0 7.45 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A46 gene SLC25A46 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC52A2 gene SLC52A2 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Fazio-Londe disease;dHMN;Brown-Vialetto-Van Laere syndrome 1 20206331 False 3 50;50;0 7.45 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A6 gene SLC5A6 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 35013551;27904971;31392107;31754459;23104561;29669219 False 3 100;0;0 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type VIIA 23141292;29782645 False 3 80;20;0 7.45 False ENSG00000115665 ENSG00000115665 HGNC:14025 SMN1 gene SMN1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000172062 ENSG00000172062 HGNC:11117 SORD gene SORD Expert Review Green;Literature Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000140263 ENSG00000140263 HGNC:11184 SOX10 gene SOX10 Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCWH syndrome, OMIM:609136 15004559;21898658;29681101;32150337 False 3 50;50;0 7.45 False ENSG00000100146 ENSG00000100146 HGNC:11190 SPAST gene SPAST Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 28572275;39731306 False 3 60;20;20 7.45 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;axonal Charcot-Marie-Tooth disease type 2X 26556829 False 3 75;25;0 7.45 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG7 gene SPG7 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586;20186691;22571692 False 3 67;11;22 7.45 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPTAN1 gene SPTAN1 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, autosomal dominant 11, OMIM:620528;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 20493457;22258530;32811770 False 3 100;0;0 7.45 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN4 gene SPTBN4 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;28940097;29861105;31230720;31857255;32672909 False 3 100;0;0 7.45 False ENSG00000160460 ENSG00000160460 HGNC:14896 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 Neurology 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 7.45 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 Neurology 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 7.45 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 SURF1 gene SURF1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency, 256000;Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV 27475922;12026244;24027061 False 3 80;20;0 7.45 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYT2 gene SYT2 Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040 25192047;26519543;30533528;33105646;34037996 False 3 57;43;0 7.45 False ENSG00000143858 ENSG00000143858 HGNC:11510 TBCE gene TBCE Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207 27666369 False 3 100;0;0 7.45 False ENSG00000116957 ENSG00000116957 HGNC:11582 TDP1 gene TDP1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, MONDO:0011801 12244316;31182267;39576382 False 3 57;29;14 7.45 False ENSG00000042088 ENSG00000042088 HGNC:18884 TECPR2 gene TECPR2 Expert Review Green;Literature;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 PubMed: 33847017 False 3 100;0;0 7.45 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 Neurology 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 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2R, 615490 25893792;18687884;23562820 False 3 60;40;0 7.45 False ENSG00000109654 ENSG00000109654 HGNC:15974 TRMT5 gene TRMT5 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 35342985;26189817;29021354 False 3 100;0;0 7.45 False ENSG00000126814 ENSG00000126814 HGNC:23141 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary motor and sensory neuropathy, type IIc, 606071 20037586 False 3 86;14;0 7.45 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 TTC19 gene TTC19 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157;mitochondrial complex III deficiency nuclear type 2, MONDO:0014063 25652355;37927170;40946707 False 3 100;0;0 7.45 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTPA gene TTPA Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency, OMIM:277460;familial isolated deficiency of vitamin E MONDO:0010188 24369383 False 3 40;40;20 7.45 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related, 105210;FAP;Cardiomyopathy 31111153;31131842;30878017;30120737;31118583 False 3 80;20;0 7.45 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBB3 gene TUBB3 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638;CFEOM3A 34652576;25482575;20074521 False 3 80;20;0 7.45 False ENSG00000258947 ENSG00000258947 HGNC:20772 TWNK gene TWNK Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR);Perrault syndrome 5, OMIM:616138 (AR);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) 37932750;32281099;32234020;24061067;20880070;25355836;17921179;15668446 False 3 40;20;40 7.45 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type) False 3 86;14;0 7.45 False ENSG00000025708 ENSG00000025708 HGNC:3148 UBA1 gene UBA1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000130985 ENSG00000130985 HGNC:12469 UCHL1 gene UCHL1 Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79B, autosomal recessive, OMIM:615491;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 23359680;28007905;29735986;32656641;11555633;33159930;35986737 False 3 100;0;0 7.45 False ENSG00000154277 ENSG00000154277 HGNC:12513 VAPB gene VAPB Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 2Y, OMIM:616687 26574898;25878907;25125609;32165109 False 3 83;0;17 7.45 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS13D gene VPS13D Expert list;Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 29518281: 29604224: 14681893: 11960835 False 3 100;0;0 7.45 False ENSG00000048707 ENSG00000048707 HGNC:23595 VRK1 gene VRK1 Expert list;Expert Review Green;London North GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Distal hereditary motor neuropathy 30847374 False 3 50;50;0 7.45 False ENSG00000100749 ENSG00000100749 HGNC:12718 VWA1 gene VWA1 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000179403 ENSG00000179403 HGNC:30910 WARS gene WARS Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuronopathy, distal hereditary motor, type IX, 617721 28369220 False 3 100;0;0 7.45 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 Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 15060842 False 3 86;14;0 7.45 False ENSG00000060237 ENSG00000060237 HGNC:14540 XK gene XK Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy;McLeod syndrome with or without chronic granulomatous disease, 300842 False 3 80;20;0 7.45 False ENSG00000047597 ENSG00000047597 HGNC:12811 XPA gene XPA Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, OMIM:278700;Sensory-motor axonal peripheral neuropathy 2168777;34627174 False 3 67;33;0 7.45 False ENSG00000136936 ENSG00000136936 HGNC:12814 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, dominant intermediate C, 608323 19561293;16429158 False 3 86;14;0 7.45 False ENSG00000134684 ENSG00000134684 HGNC:12840 ZFYVE26 gene ZFYVE26 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 17661097;18098276;19805727;26492578;27217339;24833714 False 3 40;40;20 7.45 False ENSG00000072121 ENSG00000072121 HGNC:20761 AFG3L2 gene AFG3L2 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, OMIM:614487 22022284 False 2 0;100;0 7.45 False ENSG00000141385 ENSG00000141385 HGNC:315 ALDH18A1 gene ALDH18A1 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9A, autosomal dominant, OMIM:601162;hereditary spastic paraplegia 9A, MONDO:0011006;Spastic paraplegia 9B, autosomal recessive, OMIM:616586;autosomal recessive complex spastic paraplegia type 9B, MONDO:0014702 26026163 False 2 0;100;0 7.45 False ENSG00000059573 ENSG00000059573 HGNC:9722 AMPD2 gene AMPD2 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, OMIM:615809;pontocerebellar hypoplasia type 9, MONDO:0014351 27066553 False 2 0;100;0 7.45 False ENSG00000116337 ENSG00000116337 HGNC:469 ARHGEF10 gene ARHGEF10 Expert list;Expert Review Amber;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Slowed nerve conduction velocity, AD, 608236 14508709;21719701;25025039;25275565;25091364 False 2 44;22;33 7.45 False ENSG00000104728 ENSG00000104728 HGNC:14103 CHRNA3 gene CHRNA3 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, OMIM:191800;autonomic nervous system disorder, MONDO:0001292 38192228;37161764;33947782;31708116 False 2 100;0;0 7.45 False ENSG00000080644 ENSG00000080644 HGNC:1957 DEGS1 gene DEGS1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition;Leukodystrophy, hypomyelinating, 18, 618404 30620337;30620338 False 2 50;50;0 7.45 False ENSG00000143753 ENSG00000143753 HGNC:13709 DGUOK gene DGUOK Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Portal hypertension, noncirrhotic, 617068;Neonatal liver failure, myopathy, sensory-motor axonal neuropathy 15883261 False 2 0;100;0 7.45 False ENSG00000114956 ENSG00000114956 HGNC:2858 DSTYK gene DSTYK Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, autosomal recessive, OMIM:270750;hereditary spastic paraplegia 23, MONDO:0010046 False 2 0;100;0 7.45 False ENSG00000133059 ENSG00000133059 HGNC:29043 FBXO38 gene FBXO38 Expert Review;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IID, 615575 24207122 False 2 40;60;0 7.45 False ENSG00000145868 ENSG00000145868 HGNC:28844 GJC2 gene GJC2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804;Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy;Spastic paraplegia 44, autosomal recessive, 613206 False 2 0;100;0 7.45 False ENSG00000198835 ENSG00000198835 HGNC:17494 JAG1 gene JAG1 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vocal cord palsy;Peripheral neuropathy 32065591;25707699 False 2 100;0;0 7.45 False Other ENSG00000101384 ENSG00000101384 HGNC:6188 KCNA2 gene KCNA2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 32, 616366;Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family 27543892 False 2 50;50;0 7.45 False ENSG00000177301 ENSG00000177301 HGNC:6220 KIF21A gene KIF21A Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFEOM;agenesis of the corpus callosum;peripheral neuropathy, MONDO:0005244 22699964;32141982;37921537;39643435;41282472 False 2 50;50;0 7.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000139116 ENSG00000139116 HGNC:19349 LRP12 gene LRP12 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 28, OMIM:620452;amyotrophic lateral sclerosis 28, MONDO:0957538;Oculopharyngodistal myopathy 1, OMIM:164310;oculopharyngodistal myopathy 1, MONDO:0020793 39013564;37339631;31332380 False 2 67;0;33 7.45 False ENSG00000147650 ENSG00000147650 HGNC:31708 MAPK8IP3 gene MAPK8IP3 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443;neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755 37462082;30945334;30612693 False 2 33;67;0 7.45 False ENSG00000138834 ENSG00000138834 HGNC:6884 MFF gene MFF Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086 26783368 False 2 50;50;0 7.45 False ENSG00000168958 ENSG00000168958 HGNC:24858 MT-RNR1 gene MT-RNR1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MITOCHONDRIAL Parkinsonism, deafness, and sensory-motor axonal neuropathy False 2 50;50;0 7.45 False ENSG00000211459 ENSG00000211459 HGNC:7470 MT-TL1 gene MT-TL1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MITOCHONDRIAL Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy False 2 50;50;0 7.45 False ENSG00000209082 ENSG00000209082 HGNC:7490 PRKCG gene PRKCG Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;Spinocerebellar ataxia 14, 605361;Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome 26633542;29603387 False 2 25;50;25 7.45 False ENSG00000126583 ENSG00000126583 HGNC:9402 PSMC3 gene PSMC3 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354 32500975 False 2 0;100;0 7.45 False ENSG00000165916 ENSG00000165916 HGNC:9549 PTEN gene PTEN Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, 158350;multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas False 2 50;50;0 7.45 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy;Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus 25884655;26952712;26337637 False 2 25;50;25 7.45 False ENSG00000179295 ENSG00000179295 HGNC:9644 SCYL1 gene SCYL1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21, 616719;Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy 26581903 False 2 0;100;0 7.45 False ENSG00000142186 ENSG00000142186 HGNC:14372 SOD1 gene SOD1 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626;Amyotrophic lateral sclerosis 1, OMIM:105400 22475618;36316849;39932579 False 2 100;0;0 7.45 False ENSG00000142168 ENSG00000142168 HGNC:11179 SUCLA2 gene SUCLA2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 17287286 False 2 0;100;0 7.45 False ENSG00000136143 ENSG00000136143 HGNC:11448 TRPA1 gene TRPA1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 1, 615040 False 2 50;50;0 7.45 False ENSG00000104321 ENSG00000104321 HGNC:497 UQCRC1 gene UQCRC1 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinsonism with polyneuropathy, OMIM:619279 33141179 False 2 100;0;0 7.45 False ENSG00000010256 ENSG00000010256 HGNC:12585 VPS13A gene VPS13A Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, 200150;Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK False 2 50;50;0 7.45 False ENSG00000197969 ENSG00000197969 HGNC:1908 XPNPEP3 gene XPNPEP3 Expert Review Amber;Other Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM:613159;Peripheral neuropathy, MONDO:0005244;myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 38035175;40953058 False 2 0;100;0 7.45 False ENSG00000196236 ENSG00000196236 HGNC:28052 XRCC1 gene XRCC1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 29472272;28002403 False 2 0;100;0 7.45 False ENSG00000073050 ENSG00000073050 HGNC:12828 ABCC9 gene ABCC9 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000069431 ENSG00000069431 HGNC:60 ACTC1 gene ACTC1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000077522 ENSG00000077522 HGNC:164 ALDH3A2 gene ALDH3A2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000072210 ENSG00000072210 HGNC:403 ANKRD1 gene ANKRD1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000148677 ENSG00000148677 HGNC:15819 BRAF gene BRAF Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000157764 ENSG00000157764 HGNC:1097 C19orf12 gene C19orf12 London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs;Spastic paraplegia 43, autosomal recessive, 615043;Neurodegeneration with brain iron accumulation 4, 614298 23857908;20039086 False 1 0;100;0 7.45 False ENSG00000131943 ENSG00000131943 HGNC:25443 CACNB4 gene CACNB4 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000182389 ENSG00000182389 HGNC:1404 CASQ2 gene CASQ2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000118729 ENSG00000118729 HGNC:1513 CAV3 gene CAV3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000182533 ENSG00000182533 HGNC:1529 CCT5 gene CCT5 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Sensory Neuropathy with Spastic Paraplegia;Neuropathy, hereditary sensory, with spastic paraplegia, 256840 16399879 False 1 0;33;67 7.45 False ENSG00000150753 ENSG00000150753 HGNC:1618 CLTCL1 gene CLTCL1 Expert Review;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal 26068709 False 1 0;25;75 7.45 False ENSG00000070371 ENSG00000070371 HGNC:2093 COQ8A gene COQ8A Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;33;67 7.45 False ENSG00000163050 ENSG00000163050 HGNC:16812 CRYAB gene CRYAB Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000109846 ENSG00000109846 HGNC:2389 CSRP3 gene CSRP3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000129170 ENSG00000129170 HGNC:2472 DCAF8 gene DCAF8 Expert Review;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Giant axonal neuropathy 2, autosomal dominant, 610100 24500646 False 1 0;25;75 7.45 False ENSG00000132716 ENSG00000132716 HGNC:24891 DES gene DES Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000175084 ENSG00000175084 HGNC:2770 DLD gene DLD Expert Review Red;Other Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900;hepatic dysfunction;sensory axonal neuropathy 40888368 False 1 0;100;0 7.45 False ENSG00000091140 ENSG00000091140 HGNC:2898 DMD gene DMD Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000096696 ENSG00000096696 HGNC:3052 DTNA gene DTNA Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000134769 ENSG00000134769 HGNC:3057 EMD gene EMD Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000102119 ENSG00000102119 HGNC:3331 ERBB3 gene ERBB3 London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2, 607598;Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder 17709104 False 1 0;100;0 7.45 False ENSG00000065361 ENSG00000065361 HGNC:3431 FGF14 gene FGF14 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000102466 ENSG00000102466 HGNC:3671 FKTN gene FKTN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000106692 ENSG00000106692 HGNC:3622 GAA gene GAA Emory Genetics Laboratory;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy 24627108 False 1 33;33;33 7.45 False ENSG00000171298 ENSG00000171298 HGNC:4065 GATAD1 gene GATAD1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000157259 ENSG00000157259 HGNC:29941 GLE1 gene GLE1 London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, 253310;Congenital arthrogryposis with anterior horn cell disease, 611890;Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death 18204449 False 1 0;100;0 7.45 False ENSG00000119392 ENSG00000119392 HGNC:4315 HOXD10 gene HOXD10 Emory Genetics Laboratory;Expert list;Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, foot deformity of, 192950 15146389 False 1 0;67;33 7.45 False ENSG00000128710 ENSG00000128710 HGNC:5133 HRAS gene HRAS Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSPB3 gene HSPB3 Expert list;Expert Review Red;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Neuronopathy, distal hereditary motor, type IIC, 613376 27549087;20142617 False 1 17;17;67 7.45 False ENSG00000169271 ENSG00000169271 HGNC:5248 ITPR1 gene ITPR1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000150995 ENSG00000150995 HGNC:6180 JPH2 gene JPH2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000149596 ENSG00000149596 HGNC:14202 JUP gene JUP Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000173801 ENSG00000173801 HGNC:6207 KARS gene KARS Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 89, 613916;Charcot-Marie-Tooth, Intermediate (Dominant);Charcot-Marie-Tooth, Intermediate (Dominant).;Charcot Marie Tooth disease, recessive intermediate, B, 613641 25476837;23768514;20920668 False 1 17;33;50 7.45 False ENSG00000065427 ENSG00000065427 HGNC:6215 KCNA1 gene KCNA1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNC3 gene KCNC3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000131398 ENSG00000131398 HGNC:6235 KIF1B gene KIF1B Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 2A1, 118210 11389829;25802885 False 1 17;33;50 7.45 False ENSG00000054523 ENSG00000054523 HGNC:16636 KLC2 gene KLC2 London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy;Spastic paraplegia, optic atrophy, and neuropathy, 609541 26385635 False 1 0;100;0 7.45 False ENSG00000174996 ENSG00000174996 HGNC:20716 KRAS gene KRAS Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000133703 ENSG00000133703 HGNC:6407 L1CAM gene L1CAM Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000198910 ENSG00000198910 HGNC:6470 LAMA4 gene LAMA4 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000112769 ENSG00000112769 HGNC:6484 LAMP2 gene LAMP2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAS1L gene LAS1L Expert Review;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 24647030 False 1 0;25;75 7.45 False ENSG00000001497 ENSG00000001497 HGNC:25726 LDB3 gene LDB3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000122367 ENSG00000122367 HGNC:15710 MAP2K1 gene MAP2K1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000126934 ENSG00000126934 HGNC:6842 MARS gene MARS Expert Review;Expert Review Red;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2U, 616280 23729695;29655802 False 1 0;40;60 7.45 False ENSG00000166986 ENSG00000166986 HGNC:6898 MED25 gene MED25 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 2B2, 605589 19290556 False 1 33;17;50 7.45 False ENSG00000104973 ENSG00000104973 HGNC:28845 MRE11 gene MRE11 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000020922 ENSG00000020922 HGNC:7230 MT-ND6 gene MT-ND6 Expert Review Red;Literature Hereditary neuropathy or pain disorder Neurology MITOCHONDRIAL Leber hereditary optic neuropathy 20301353 False 1 50;0;50 7.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198695 ENSG00000198695 HGNC:7462 MYBPC3 gene MYBPC3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYO9B gene MYO9B Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal CMT2 36260368 False 1 100;0;0 7.45 False ENSG00000099331 ENSG00000099331 HGNC:7609 MYOZ2 gene MYOZ2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000138347 ENSG00000138347 HGNC:23246 NAGLU gene NAGLU Expert Review;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 25818867 False 1 0;50;50 7.45 False ENSG00000108784 ENSG00000108784 HGNC:7632 NEBL gene NEBL Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000078114 ENSG00000078114 HGNC:16932 NEXN gene NEXN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000162614 ENSG00000162614 HGNC:29557 NIPA1 gene NIPA1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Neuropathies;Spastic paraplegia 6, autosomal dominant 14508710;15711826;21419568;22302102;15643603 False 1 33;33;33 7.45 False ENSG00000170113 ENSG00000170113 HGNC:17043 NOP56 gene NOP56 Expert list;Expert Review Red Hereditary neuropathy or pain disorder Neurology Other Spinocerebellar ataxia 36, OMIM:614153 22492559: 22744658: 21683323 False 1 100;0;0 7.45 False ENSG00000101361 ENSG00000101361 HGNC:15911 NOTCH2NL gene NOTCH2NL Expert Review Red;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 36948577;37749855;34675106 False 1 50;0;50 7.45 False Other ENSG00000213240 ENSG00000264343 HGNC:31862 NRAS gene NRAS Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000213281 ENSG00000213281 HGNC:7989 PCYT2 gene PCYT2 Expert Review Red;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 82, autosomal recessive, OMIM:618770;axonal neuropathy, MONDO:0004183 35243002 False 1 0;50;50 7.45 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDLIM3 gene PDLIM3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000154553 ENSG00000154553 HGNC:20767 PKP2 gene PKP2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000198523 ENSG00000198523 HGNC:9080 PRKAG2 gene PRKAG2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000106617 ENSG00000106617 HGNC:9386 RAF1 gene RAF1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000132155 ENSG00000132155 HGNC:9829 RBM20 gene RBM20 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000203867 ENSG00000203867 HGNC:27424 RFC1 gene RFC1 Expert Review;Expert Review Red Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575;cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720 30926972;31824583;32851396;32582864;33969391;35883251;36250766;36289003;36524104;36478048 False 1 50;17;33 7.45 False Other ENSG00000035928 ENSG00000035928 HGNC:9969 RIT1 gene RIT1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000143622 ENSG00000143622 HGNC:10023 RYR2 gene RYR2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCP2 gene SCP2 London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, 613724;Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI 16685654 False 1 0;50;50 7.45 False ENSG00000116171 ENSG00000116171 HGNC:10606 SELENOI gene SELENOI London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals False 1 0;50;50 7.45 False ENSG00000138018 ENSG00000138018 HGNC:29361 SGCD gene SGCD Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000170624 ENSG00000170624 HGNC:10807 SIL1 gene SIL1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;33;67 7.45 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC13A3 gene SLC13A3 Expert list;Expert Review Red Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 37290914 False 1 0;50;50 7.45 False ENSG00000158296 ENSG00000158296 HGNC:14430 SLC1A3 gene SLC1A3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC52A1 gene SLC52A1 Expert list;Expert Review Red;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Riboflavin deficiency;dHMN False 1 0;33;67 7.45 False ENSG00000132517 ENSG00000132517 HGNC:30225 SOS1 gene SOS1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000115904 ENSG00000115904 HGNC:11187 SPART gene SPART Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPG21 gene SPG21 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPTBN2 gene SPTBN2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies 28333917 False 1 0;67;33 7.45 False ENSG00000173898 ENSG00000173898 HGNC:11276 TAZ gene TAZ Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000173991 ENSG00000173991 HGNC:11610 TMEM43 gene TMEM43 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC1 gene TNNC1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy False 1 33;33;33 7.45 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000140416 ENSG00000140416 HGNC:12010 TTBK2 gene TTBK2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTN gene TTN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;33;67 7.45 False ENSG00000155657 ENSG00000155657 HGNC:12403 UBA5 gene UBA5 Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy 32179706 False 1 0;0;0 7.45 False ENSG00000081307 ENSG00000081307 HGNC:23230 VCL gene VCL Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Cardiomyopathy False 1 0;67;33 7.45 False ENSG00000035403 ENSG00000035403 HGNC:12665 WASHC5 gene WASHC5 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies 27164712 False 1 0;67;33 7.45 False ENSG00000164961 ENSG00000164961 HGNC:28984 ZFYVE27 gene ZFYVE27 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology Hereditary Neuropathies False 1 0;67;33 7.45 False ENSG00000155256 ENSG00000155256 HGNC:26559 AR_CAG str AR NHS GMS;Expert Review Green;Expert Review Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 False 3 100;0;0 7.45 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert Review Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 7.45 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090 False 3 100;0;0 7.45 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 7.45 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 100;0;0 7.45 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 FMR1_CGG str FMR1 Expert Review Green;Expert Review;NHS GMS Hereditary neuropathy or pain disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fragile X syndrome, OMIM:300624;Fragile X tremor/ataxia syndrome, OMIM:300623 26212380 False 3 100;0;0 7.45 False ENSG00000102081 ENSG00000102081 HGNC:3775 X 146993569 146993628 147912051 147912110 CGG 55 200 FXN_GAA str FXN Expert Review Green;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia 1, MONDO:0100340 False 3 100;0;0 7.45 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 NOP56_GGCCTG str NOP56 Expert Review Green;Expert Review;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 22492559;22744658;21683323 False 3 100;0;0 7.45 False ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 FGF14_TTC str FGF14 Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 36516086;36493768;37267898 False 2 50;50;0 7.45 False ENSG00000102466 ENSG00000102466 HGNC:3671 13 102161576 102161726 TTC 249 300 LRP12_CGG str LRP12 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CMT2, HMN 39013564 False 2 100;0;0 7.45 False ENSG00000147650 ENSG00000147650 HGNC:31708 8 105601201 105601227 104588973 104588999 CGG 28 50 RFC1_AAGGG str RFC1 Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM: 614575 30926972;35883251;36250766;36289003;36524104;36478048;32040566;33103729;35355059 False 1 100;0;0 7.45 False ENSG00000035928 ENSG00000035928 HGNC:9969 4 39348424 39348479 AAGGG 0 400 VWA1_GGCGCGGAGC str VWA1 Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216;neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 33559681 False 1 100;0;0 7.45 False ENSG00000179403 ENSG00000179403 HGNC:30910 1 1435798 1435818 GGCGCGGAGC 2 3 ISCA-37436-Gain region ClinGen;Expert Review Green Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 20301384 False 3 100;0;0 7.45 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 Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 20301566 False 3 100;0;0 7.45 False 17 14194598 15519638 3 60 cnv_loss 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss