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 Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Glucocorticoid deficiency with achalasia;Achalasia-addisonianism-alacrimia syndrome, MIM# 231550 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000094914 ENSG00000094914 HGNC:13666 AARS gene AARS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, axonal, type 2N, 613287;HMSN, dHMN/dSMA Peripheral neuropathy;HP:0009830 20045102;22009580;22206013;30373780;26032230 False 3 100;0;0 2.39 True ENSG00000090861 ENSG00000090861 HGNC:20 ABCA1 gene ABCA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tangier Disease (MONDO:0008783;MIM#205400) Peripheral neuropathy;HP:0009830 29582519;4165386;31751110 False 3 50;50;0 2.39 True ENSG00000165029 ENSG00000165029 HGNC:29 ABCD1 gene ABCD1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenomyeloneuropathy, adult (MIM#300100);Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance Peripheral neuropathy;HP:0009830 20301491 False 3 100;0;0 2.39 True ENSG00000101986 ENSG00000101986 HGNC:61 ABHD12 gene ABHD12 Expert Review Green;NHS GMS;Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia;Neurodegeneration, childhood-onset, with cerebellar atrophy,612674;HMSN Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACOX1 gene ACOX1 Expert Review Green;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitchell syndrome, MIM# 618960 Peripheral neuropathy;HP:0009830 32169171 False 3 100;0;0 2.39 True ENSG00000161533 ENSG00000161533 HGNC:119 ADPRHL2 gene ADPRHL2 Expert Review Green;Expert Review Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Peripheral neuropathy;HP:0009830 30100084;30401461 False 3 100;0;0 2.39 True ENSG00000116863 ENSG00000116863 HGNC:21304 AFG3L2 gene AFG3L2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776;Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia Peripheral neuropathy;HP:0009830 22022284;25401298 False 3 100;0;0 2.39 True ENSG00000141385 ENSG00000141385 HGNC:315 AGTPBP1 gene AGTPBP1 Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy;Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Peripheral neuropathy;HP:0009830 30420557 False 3 100;0;0 2.39 True ENSG00000135049 ENSG00000135049 HGNC:17258 AGXT gene AGXT Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, MIM#259900 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000172482 ENSG00000172482 HGNC:341 AIFM1 gene AIFM1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6;Cowchock syndrome;HMSN Peripheral neuropathy;HP:0009830 3856385;22019070;26173962;25583628 False 3 100;0;0 2.39 True ENSG00000156709 ENSG00000156709 HGNC:8768 ALDH18A1 gene ALDH18A1 Expert Review Green;NHS GMS;Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000059573 ENSG00000059573 HGNC:9722 AMACR gene AMACR Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency (MIM#614307);Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids Peripheral neuropathy;HP:0009830 36108118;10655068;20821052;18032455 False 3 100;0;0 2.39 True ENSG00000242110 ENSG00000242110 HGNC:451 AP1S1 gene AP1S1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK Syndrome (MONDO:0012251, MIM#609313);Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma Peripheral neuropathy;HP:0009830 30244301;23423674 False 3 50;50;0 2.39 True ENSG00000106367 ENSG00000106367 HGNC:559 APOA1 gene APOA1 Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyloidosis, 3 or more types 105200;Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy" Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000118137 ENSG00000118137 HGNC:600 APTX gene APTX Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920) Peripheral neuropathy;HP:0009830 11586299 False 3 100;0;0 2.39 True ENSG00000137074 ENSG00000137074 HGNC:15984 ARL6IP1 gene ARL6IP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN/SFN;Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000170540 ENSG00000170540 HGNC:697 ARSA gene ARSA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100;Severe late infantile form with mental retardation and severe course. Regression before 30 months;adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000100299 ENSG00000100299 HGNC:713 ASAH1 gene ASAH1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy;dHMN/dSMA Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000104763 ENSG00000104763 HGNC:735 ASCC1 gene ASCC1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 2 Peripheral neuropathy;HP:0009830 26924529 False 3 100;0;0 2.39 True ENSG00000138303 ENSG00000138303 HGNC:24268 ATAD3A gene ATAD3A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATL1 gene ATL1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HSAN/SFN;Neuropathy, hereditary sensory, type ID , MIM#613708;MONDO:0013381 Peripheral neuropathy;HP:0009830 21194679;24604904;22340599 False 3 100;0;0 2.39 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATL3 gene ATL3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary sensory neuropathy type IF;HSAN/SFN Peripheral neuropathy;HP:0009830 24459106;30666337;30339187;24736309 False 3 100;0;0 2.39 True ENSG00000184743 ENSG00000184743 HGNC:24526 ATP1A1 gene ATP1A1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036;MONDO:0054833 Peripheral neuropathy;HP:0009830 29499166 False 3 100;0;0 2.39 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP7A gene ATP7A Expert Review Green;Expert Review Green;NHS GMS;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, X-linked 3, MIM# 300489;dHMN/dSMA Peripheral neuropathy;HP:0009830 20170900;33137485;31969342;31558336 False 3 100;0;0 2.39 True ENSG00000165240 ENSG00000165240 HGNC:869 BCKDHB gene BCKDHB Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000083123 ENSG00000083123 HGNC:987 BICD2 gene BICD2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290;MONDO:0014121;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291;dHMN/dSMA Peripheral neuropathy;HP:0009830 23664116;23664119;23664120;27751653;28635954;30054298;29528393 False 3 100;0;0 2.39 True ENSG00000185963 ENSG00000185963 HGNC:17208 BSCL2 gene BSCL2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VC, MIM# 619112 Peripheral neuropathy;HP:0009830 14981520;15732094 False 3 100;0;0 2.39 True ENSG00000168000 ENSG00000168000 HGNC:15832 C12orf65 gene C12orf65 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, MIM#615035;HMSN Peripheral neuropathy;HP:0009830 20301682;23188110;3479531;24198383 False 3 100;0;0 2.39 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000131943 ENSG00000131943 HGNC:25443 CADM3 gene CADM3 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519 Peripheral neuropathy;HP:0009830 33889941;38074074 False 3 33;67;0 2.39 True ENSG00000162706 ENSG00000162706 HGNC:17601 CD59 gene CD59 Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300" Peripheral neuropathy;HP:0009830 24382084;23149847 False 3 100;0;0 2.39 True ENSG00000085063 ENSG00000085063 HGNC:1689 CHCHD10 gene CHCHD10 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, Jokela type: 615048;CMT2;dHMN/dSMA Peripheral neuropathy;HP:0009830 22535186;27066538 False 3 100;0;0 2.39 True ENSG00000250479 ENSG00000250479 HGNC:15559 CLP1 gene CLP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 10;dHMN/dSMA Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000172409 ENSG00000172409 HGNC:16999 CNTNAP1 gene CNTNAP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049;MIM#618186) Peripheral neuropathy;HP:0009830 29511323;27881385 False 3 100;0;0 2.39 True ENSG00000108797 ENSG00000108797 HGNC:8011 COA7 gene COA7 Expert Review Green;Royal Melbourne Hospital;Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387;Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000162377 ENSG00000162377 HGNC:25716 COQ7 gene COQ7 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402 Peripheral neuropathy;HP:0009830 PMID: 36454683;36758993;36759155 False 3 67;33;0 2.39 True ENSG00000167186 ENSG00000167186 HGNC:2244 COX20 gene COX20 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal sensory neuronopathy;sensory neuron disease;ganglionopathy Peripheral neuropathy;HP:0009830 PMID: 33751098 False 3 100;0;0 2.39 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate D, 616039;MONDO:0014467;HMSN Peripheral neuropathy;HP:0009830 25152455;26302975;25152455 False 3 100;0;0 2.39 True ENSG00000111775 ENSG00000111775 HGNC:2277 CPOX gene CPOX Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coproporphyria, MIM#121300;Harderoporphyria, MIM#121300 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000080819 ENSG00000080819 HGNC:2321 CTDP1 gene CTDP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) Peripheral neuropathy;HP:0009830 20301787 False 3 50;50;0 2.39 True ENSG00000060069 ENSG00000060069 HGNC:2498 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS;Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Cholestanol storage disease Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, MIM#615030 Peripheral neuropathy;HP:0009830 23176821 False 3 100;0;0 2.39 True ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert Review Green;NHS GMS;Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000172817 ENSG00000172817 HGNC:2652 DARS2 gene DARS2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings Peripheral neuropathy;HP:0009830 False 3 0;100;0 2.39 True ENSG00000117593 ENSG00000117593 HGNC:25538 DCTN1 gene DCTN1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641;MONDO:0011879 Peripheral neuropathy;HP:0009830 12627231;15326253;33443672;32023010;27573046 False 3 100;0;0 2.39 True ENSG00000204843 ENSG00000204843 HGNC:2711 DEGS1 gene DEGS1 Expert Review Green;Expert list;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000143753 ENSG00000143753 HGNC:13709 DGUOK gene DGUOK Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000114956 ENSG00000114956 HGNC:2858 DHH gene DHH Expert Review Green;Expert Review Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080" Peripheral neuropathy;HP:0009830 31018998;29471294;11017805 False 3 100;0;0 2.39 True ENSG00000139549 ENSG00000139549 HGNC:2865 DHX9 gene DHX9 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related Peripheral neuropathy;HP:0009830 37467750 False 3 100;0;0 2.39 True ENSG00000135829 ENSG00000135829 HGNC:2750 DNAJB2 gene DNAJB2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Peripheral neuropathy;HP:0009830 22522442;25274842;33369814;22522442 False 3 100;0;0 2.39 True ENSG00000135924 ENSG00000135924 HGNC:5228 DNAJC3 gene DNAJC3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Peripheral neuropathy;HP:0009830 25466870;32738013;34654017 False 3 100;0;0 2.39 True ENSG00000102580 ENSG00000102580 HGNC:9439 DNM2 gene DNM2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482;Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482;MONDO:0011674 Peripheral neuropathy;HP:0009830 15731758;17636067;33459893;31628461 False 3 100;0;0 2.39 True ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT1 gene DNMT1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type IE, 614116;Dementia, Deafness, and Sensory Neuropathy;HSAN/SFN Peripheral neuropathy;HP:0009830 21532572 False 3 100;0;0 2.39 True ENSG00000130816 ENSG00000130816 HGNC:2976 DRP2 gene DRP2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot Marie Tooth, intermediate X-linked;HMSN Peripheral neuropathy;HP:0009830 22764250;26227883;31217940 False 3 100;0;0 2.39 True ENSG00000102385 ENSG00000102385 HGNC:3032 DST gene DST Expert Review Green;Royal Melbourne Hospital;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653;MONDO:0013839;HSAN/SFN" Peripheral neuropathy;HP:0009830 22522446;30371979;28468842 False 3 100;0;0 2.39 True ENSG00000151914 ENSG00000151914 HGNC:1090 DYNC1H1 gene DYNC1H1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 Peripheral neuropathy;HP:0009830 21820100;32788638;27549087 False 3 100;0;0 2.39 True ENSG00000197102 ENSG00000197102 HGNC:2961 EGR2 gene EGR2 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 1D 607678 AD;Dejerine-Sottas disease 145900 AD, AR;Hypomyelinating neuropathy, congenital, 1 605253 AD, AR Peripheral neuropathy;HP:0009830 11523566;31852952 False 3 100;0;0 2.39 True Other ENSG00000122877 ENSG00000122877 HGNC:3239 ELP1 gene ELP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, 223900;Riley-Day syndrome MONDO:0009131;Hereditary sensory and autonomic neuropathy 3;HSAN/SFN Peripheral neuropathy;HP:0009830 11179008;11179021;17644305 False 3 100;0;0 2.39 True ENSG00000070061 ENSG00000070061 HGNC:5959 ERCC6 gene ERCC6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B MIM#133540 Peripheral neuropathy;HP:0009830 25453614;20301516 False 3 100;0;0 2.39 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A MIM#216400 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000049167 ENSG00000049167 HGNC:3439 ETFDH gene ETFDH Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282;sensory neuropathy Peripheral neuropathy;HP:0009830 32608139;35309592;26821934 False 3 100;0;0 2.39 True ENSG00000171503 ENSG00000171503 HGNC:3483 EXOSC8 gene EXOSC8 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal dHMN/dSMA;Pontocerebellar hypoplasia, type 1c, MIM# 616081 Peripheral neuropathy;HP:0009830 24989451 False 3 100;0;0 2.39 True ENSG00000120699 ENSG00000120699 HGNC:17035 EXOSC9 gene EXOSC9 Expert Review Green;Expert Review Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1D, MIM# 618065 Peripheral neuropathy;HP:0009830 30690203;29727687 False 3 100;0;0 2.39 True ENSG00000123737 ENSG00000123737 HGNC:9137 FAH gene FAH Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type I, MIM# 276700" Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000103876 ENSG00000103876 HGNC:3579 FBLN5 gene FBLN5 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895 Peripheral neuropathy;HP:0009830 32757322;31945625;23328402;28332470 False 3 100;0;0 2.39 True ENSG00000140092 ENSG00000140092 HGNC:3602 FGD4 gene FGD4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4H, 609311;MONDO:0012250;HMSN Peripheral neuropathy;HP:0009830 17564959;31152969;28847448;28543957 False 3 100;0;0 2.39 True ENSG00000139132 ENSG00000139132 HGNC:19125 FICD gene FICD Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 92, autosomal recessive, MIM# 620911 Peripheral neuropathy;HP:0009830 36136088 False 3 100;0;0 2.39 True ENSG00000198855 ENSG00000198855 HGNC:18416 FIG4 gene FIG4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4J, MIM# 611228;MONDO:0012640;HMSN Peripheral neuropathy;HP:0009830 17572665;21705420;24878229 False 3 100;0;0 2.39 True ENSG00000112367 ENSG00000112367 HGNC:16873 FLVCR1 gene FLVCR1 Expert Review Green;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033" Peripheral neuropathy;HP:0009830 21267618;21070897 False 3 100;0;0 2.39 True ENSG00000162769 ENSG00000162769 HGNC:24682 FXN gene FXN Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Friedreich ataxia, MIM# 229300" Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True Other ENSG00000165060 ENSG00000165060 HGNC:3951 GAN gene GAN Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, MIM# 256850 Peripheral neuropathy;HP:0009830 11062483 False 3 100;0;0 2.39 True ENSG00000261609 ENSG00000261609 HGNC:4137 GARS gene GARS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HMSN, dHMN/dSMA;Spinal muscular atrophy, infantile, James type, MIM# 619042;Neuropathy, distal hereditary motor, type V, 600794;Charcot Marie Tooth disease, type 2D, 601472 Peripheral neuropathy;HP:0009830 17101916;22462675;31985473;32181591;12690580;25168514;26503042;29648643;16982418 False 3 100;0;0 2.39 True ENSG00000106105 ENSG00000106105 HGNC:4162 GBA2 gene GBA2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409;SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy Peripheral neuropathy;HP:0009830 20301682;23332917;29524657 False 3 100;0;0 2.39 True ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form MIM#263570;Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI Peripheral neuropathy;HP:0009830 23034915;1763891;8494336;20301758 False 3 100;0;0 2.39 True ENSG00000114480 ENSG00000114480 HGNC:4180 GBF1 gene GBF1 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483;Axonal Neuropathy Peripheral neuropathy;HP:0009830 32937143 False 3 100;0;0 2.39 True ENSG00000107862 ENSG00000107862 HGNC:4181 GDAP1 gene GDAP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706;Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340;Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Peripheral neuropathy;HP:0009830 16172208;21753178;21365284;20232219;11743580 False 3 100;0;0 2.39 True ENSG00000104381 ENSG00000104381 HGNC:15968 GJB1 gene GJB1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800;MONDO:0010549;HMSN Peripheral neuropathy;HP:0009830 8266101;17100997;17353473 False 3 100;0;0 2.39 True ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 2, MIM# 608804" Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cardiomyopathy;HSAN/SFN;Fabry disease Peripheral neuropathy;HP:0009830 19318041;22497776 False 3 0;100;0 2.39 True ENSG00000102393 ENSG00000102393 HGNC:4296 GNB4 gene GNB4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185;MONDO:0014074;HMSN Peripheral neuropathy;HP:0009830 23434117;28642160;27908631 False 3 100;0;0 2.39 True ENSG00000114450 ENSG00000114450 HGNC:20731 GSN gene GSN Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Amyloidosis, Finnish type MIM#105120 Peripheral neuropathy;HP:0009830 8684801;228009;3513049 False 3 0;100;0 2.39 True ENSG00000148180 ENSG00000148180 HGNC:4620 HADHA gene HADHA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency MIM#609016;Mitochondrial trifunctional protein deficiency MIM#609015 Peripheral neuropathy;HP:0009830 8871579;23868323;33744096;12838198;36063482 False 3 0;100;0 2.39 True ENSG00000084754 ENSG00000084754 HGNC:4801 HARS gene HARS Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625;MONDO:0014711;HMSN Peripheral neuropathy;HP:0009830 26072516 False 3 100;0;0 2.39 True ENSG00000170445 ENSG00000170445 HGNC:4816 HEXA gene HEXA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Usually infantile-onset, developmental delay and cognitive decline, visual loss ( cherry red spot ), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described;Tay-Sachs disease Peripheral neuropathy;HP:0009830 17015493;18642377;3159334;1838393 False 3 100;0;0 2.39 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Usually infantile-onset, developmental delay and cognitive decline, visual loss ( cherry red spot ), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described;Tay-Sachs disease Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000049860 ENSG00000049860 HGNC:4879 HINT1 gene HINT1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200;Gamstorp-Wohlfart syndrome, MONDO:0007646;HMSN, dHMN/dSMA Peripheral neuropathy;HP:0009830 22961002;33663550;33404983;31848916 False 3 100;0;0 2.39 True ENSG00000169567 ENSG00000169567 HGNC:4912 HK1 gene HK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Neuropathy, hereditary motor and sensory, Russe type, 605285 Peripheral neuropathy;HP:0009830 19536174;26822750 False 3 100;0;0 2.39 True ENSG00000156515 ENSG00000156515 HGNC:4922 HMBS gene HMBS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria, acute intermittent MIM#176000;MONDO:0008294 Peripheral neuropathy;HP:0009830 31205461;20301372;8563760 False 3 50;50;0 2.39 True ENSG00000256269 ENSG00000256269 HGNC:4982 HSPB1 gene HSPB1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, axonal, type 2F, 606595;MONDO:0011687;HMSN, dHMN/dSMA;Neuropathy, distal hereditary motor, type IIB, 608634;MONDO:0012080 Peripheral neuropathy;HP:0009830 21785432;15122254;18832141;32639100;32334137 False 3 100;0;0 2.39 True ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN, dHMN/dSMA;Neuropathy, distal hereditary motor, type IIA, 158590;Charcot Marie Tooth disease, axonal, type 2L, 608673 Peripheral neuropathy;HP:0009830 15122253;15565283;29029362;28780615;28144995;26718575 False 3 100;0;0 2.39 True ENSG00000152137 ENSG00000152137 HGNC:30171 IARS2 gene IARS2 Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007" Peripheral neuropathy;HP:0009830 28328135;30419932;25130867;30041933 False 3 100;0;0 2.39 True ENSG00000067704 ENSG00000067704 HGNC:29685 IGHMBP2 gene IGHMBP2 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN, dHMN/dSMA;Charcot-Marie-Tooth disease, axonal, type 2S 616155;Neuronopathy, distal hereditary motor, type VI, 604320 Peripheral neuropathy;HP:0009830 25439726 False 3 100;0;0 2.39 True ENSG00000132740 ENSG00000132740 HGNC:5542 INF2 gene INF2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate E, 614455;HMSN Peripheral neuropathy;HP:0009830 22187985;30680856;25943269 False 3 100;0;0 2.39 True ENSG00000203485 ENSG00000203485 HGNC:23791 ITPR3 gene ITPR3 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111 Peripheral neuropathy;HP:0009830 32949214;24627108 False 3 100;0;0 2.39 True Other ENSG00000096433 ENSG00000096433 HGNC:6182 JAG1 gene JAG1 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral neuropathy Peripheral neuropathy;HP:0009830 32065591;25707699 False 3 50;50;0 2.39 True ENSG00000101384 ENSG00000101384 HGNC:6188 KIF1A gene KIF1A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN/SFN;Neuropathy, hereditary sensory, type IIC, 614213 Peripheral neuropathy;HP:0009830 21820098;28708278 False 3 100;0;0 2.39 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF5A gene KIF5A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;HMSN Peripheral neuropathy;HP:0009830 30057544;29892902;28902413;26403765;25695920;25008398 False 3 100;0;0 2.39 True ENSG00000155980 ENSG00000155980 HGNC:6323 KLC2 gene KLC2 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Peripheral neuropathy;HP:0009830 26385635 False 3 100;0;0 2.39 True ENSG00000174996 ENSG00000174996 HGNC:20716 LITAF gene LITAF Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 1C, MIM# 601098;MONDO:0010995 Peripheral neuropathy;HP:0009830 12525712;19541485;23359569;32665875;28211240 False 3 100;0;0 2.39 True ENSG00000189067 ENSG00000189067 HGNC:16841 LRSAM1 gene LRSAM1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436;MONDO:0013753;HMSN Peripheral neuropathy;HP:0009830 20865121;22012984;22781092;27686364;33568173;33414056;30996334 False 3 100;0;0 2.39 True ENSG00000148356 ENSG00000148356 HGNC:25135 LYST gene LYST Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome MIM#214500;MONDO:0008963 Peripheral neuropathy;HP:0009830 24521565;15790783;20301751 False 3 0;100;0 2.39 True ENSG00000143669 ENSG00000143669 HGNC:1968 MCM3AP gene MCM3AP Expert Review Green;Expert list;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Peripheral neuropathy;HP:0009830 24123876;28633435;28969388;29982295;32202298 False 3 100;0;0 2.39 True ENSG00000160294 ENSG00000160294 HGNC:6946 MFN2 gene MFN2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A 609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087;Hereditary motor and sensory neuropathy VIA, MIM# 601152 Peripheral neuropathy;HP:0009830 15064763;15549395;16437557;20008656 False 3 100;0;0 2.39 True ENSG00000116688 ENSG00000116688 HGNC:16877 MME gene MME Expert Review Green;Royal Melbourne Hospital;Royal Melbourne Hospital;GeneReviews Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017;MONDO:0014866 Peripheral neuropathy;HP:0009830 26991897;27588448;33144514;31429185 False 3 100;0;0 2.39 True ENSG00000196549 ENSG00000196549 HGNC:7154 MORC2 gene MORC2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688;MONDO:0014736 Peripheral neuropathy;HP:0009830 26497905;26659848;28771897;27105897 False 3 50;0;50 2.39 True ENSG00000133422 ENSG00000133422 HGNC:23573 MORC2 gene MORC2 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Peripheral neuropathy;HP:0009830 32693025;26497905;26659848 False 3 100;0;0 2.39 True ENSG00000133422 ENSG00000133422 HGNC:23573 MPV17 gene MPV17 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Peripheral neuropathy;HP:0009830 22508010;26437932;30298599 False 3 100;0;0 2.39 True ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, dominant intermediate D, 60779;Neuropathy, congenital hypomyelinating, 605253;Charcot Marie Tooth disease, type 2J, 607736;Dejerine Sottas disease, 145900;Charcot Marie Tooth disease, type 1B, 118200;Charcot Marie Tooth disease, type 2I, 607677;HMSN Peripheral neuropathy;HP:0009830 19293842 False 3 100;0;0 2.39 True ENSG00000158887 ENSG00000158887 HGNC:7225 MTMR2 gene MTMR2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, 601382;HMSN;MONDO:0011066 Peripheral neuropathy;HP:0009830 10802647;16249189;33653949;32586600;32488727;31680794 False 3 100;0;0 2.39 True ENSG00000087053 ENSG00000087053 HGNC:7450 MTTP gene MTTP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia (MIM#200100);Young onset;Abetalipoproteinaemia;hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy Peripheral neuropathy;HP:0009830 33994405 False 3 100;0;0 2.39 True ENSG00000138823 ENSG00000138823 HGNC:7467 MYH14 gene MYH14 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369 Peripheral neuropathy;HP:0009830 21480433;35274842;31231018;27875632 False 3 100;0;0 2.39 True ENSG00000105357 ENSG00000105357 HGNC:23212 NAGA gene NAGA Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, MIM#609242 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000198951 ENSG00000198951 HGNC:7631 NARS gene NARS Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092;Abnormal muscle tone;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Ataxia;Abnormality of the face;Demyelinating peripheral neuropathy Peripheral neuropathy;HP:0009830 32738225 False 3 100;0;0 2.39 True ENSG00000134440 ENSG00000134440 HGNC:7643 NDC1 gene NDC1 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal triple-A syndrome MONDO:0009279 Peripheral neuropathy;HP:0009830 39003500;19782045 False 3 100;0;0 2.39 True ENSG00000058804 ENSG00000058804 HGNC:25525 NDRG1 gene NDRG1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Charcot Marie Tooth disease, type 4D, 601455;MONDO:0011085 Peripheral neuropathy;HP:0009830 10831399;24136616;33334662;29724652;29174527;28776325 False 3 100;0;0 2.39 True ENSG00000104419 ENSG00000104419 HGNC:7679 NEFH gene NEFH Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2CC, 616924;HMSN Peripheral neuropathy;HP:0009830 30992180;27040688;28709447 False 3 100;0;0 2.39 True ENSG00000100285 ENSG00000100285 HGNC:7737 NEFL gene NEFL Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 2E, 607684;Charcot-Marie-Tooth disease, dominant intermediate G, 617882;HMSN;Charcot Marie Tooth disease, type 1F, 607734 Peripheral neuropathy;HP:0009830 10841809;12393795;14733962;24887401;25877835;20039262;12566280;29191368;28902413 False 3 100;0;0 2.39 True ENSG00000104725 ENSG00000277586 HGNC:7739 NEMF gene NEMF Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099;Intellectual disability;neuropathy Peripheral neuropathy;HP:0009830 32934225 False 3 100;0;0 2.39 True ENSG00000165525 ENSG00000165525 HGNC:10663 NGF gene NGF Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN/SFN;Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654;MONDO:0012092 Peripheral neuropathy;HP:0009830 14976160;20978020;33884296;32693191;31685654;30296891 False 3 100;0;0 2.39 True ENSG00000134259 ENSG00000134259 HGNC:7808 NGLY1 gene NGLY1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273);Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy Peripheral neuropathy;HP:0009830 22581936;27388694;29419975 False 3 100;0;0 2.39 True ENSG00000151092 ENSG00000151092 HGNC:17646 NIPA1 gene NIPA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 6 Peripheral neuropathy;HP:0009830 21419568 False 3 100;0;0 2.39 True ENSG00000170113 ENSG00000170113 HGNC:17043 NTRK1 gene NTRK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary sensory and autonomic neuropathy type 4 MONDO:0009746 Peripheral neuropathy;HP:0009830 20301726;11310631 False 3 100;0;0 2.39 True ENSG00000198400 ENSG00000198400 HGNC:8031 NUDT2 gene NUDT2 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular hypotonia;Global developmental delay;Intellectual disability;Polyneuropathy Peripheral neuropathy;HP:0009830 33058507;27431290;30059600;33058507 False 3 100;0;0 2.39 True ENSG00000164978 ENSG00000164978 HGNC:8049 OPA1 gene OPA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy plus syndrome (MIM#125250) Peripheral neuropathy;HP:0009830 16240368;18065439;20157015;21112924 False 3 100;0;0 2.39 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 3 MONDO:0008133 Peripheral neuropathy;HP:0009830 31119193;28050599 False 3 100;0;0 2.39 True Other ENSG00000125741 ENSG00000125741 HGNC:8142 PDHA1 gene PDHA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170 Peripheral neuropathy;HP:0009830 36693417;33661577 False 3 100;0;0 2.39 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDK3 gene PDK3 Expert Review Green;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905;HMSN Peripheral neuropathy;HP:0009830 23297365;26801680;27388934;28902413 False 3 100;0;0 2.39 True ENSG00000067992 ENSG00000067992 HGNC:8811 PDXK gene PDXK Expert Review Green;Literature;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Axonal polyneuropathy;optic atrophy Peripheral neuropathy;HP:0009830 32522499;31187503;27604308 False 3 50;50;0 2.39 True ENSG00000160209 ENSG00000160209 HGNC:8819 PDYN gene PDYN Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 23 (MIM#610245);Cerebellar ataxia, sensory-motor axonal neuropathy;Spinocerebellar ataxia 23 Peripheral neuropathy;HP:0009830 21035104 False 3 50;50;0 2.39 True ENSG00000101327 ENSG00000101327 HGNC:8820 PEX10 gene PEX10 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Peripheral neuropathy;HP:0009830 27230853;20695019 False 3 100;0;0 2.39 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger), 614859;HMSN Peripheral neuropathy;HP:0009830 24627108;33123925 False 3 100;0;0 2.39 True ENSG00000108733 ENSG00000108733 HGNC:8854 PHYH gene PHYH Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Refsum Disease MIM#266500 Peripheral neuropathy;HP:0009830 2433405;20301527 False 3 50;50;0 2.39 True ENSG00000107537 ENSG00000107537 HGNC:8940 PLA2G16 gene PLA2G16 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 9, MIM# 620683 Peripheral neuropathy;HP:0009830 PMID: 37919452 False 3 100;0;0 2.39 True ENSG00000176485 ENSG00000176485 HGNC:17825 PLA2G6 gene PLA2G6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 (MIM#256600);Neurodegeneration with brain iron accumulation 2B (MIM#610217) Peripheral neuropathy;HP:0009830 29859652 False 3 100;0;0 2.39 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLEKHG5 gene PLEKHG5 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN, dHMN/dSMA;Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376;Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Peripheral neuropathy;HP:0009830 17564964;23777631;23844677;33492783;33275839;33220101;23777631 False 3 100;0;0 2.39 True ENSG00000171680 ENSG00000171680 HGNC:29105 PMM2 gene PMM2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders 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 Peripheral neuropathy;HP:0009830 20301507;20301289 False 3 100;0;0 2.39 True ENSG00000140650 ENSG00000140650 HGNC:9115 PMP22 gene PMP22 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 1A, 118220;Roussy Levy syndrome, 180800;Neuropathy, inflammatory demyelinating, 139393;Neuropathy, recurrent, with pressure palsies, 162500;Charcot Marie Tooth disease, type 1E, 118300;Dejerine Sottas disease, 145900;HMSN Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000109099 ENSG00000109099 HGNC:9118 PNKP gene PNKP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589);Ataxia-oculomotor apraxia 4 (MIM#616267) Peripheral neuropathy;HP:0009830 30039206;27066567;25728773 False 3 100;0;0 2.39 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Laurence-Moon Syndrome (LMS) MIM#245800;Spastic Paraplegia Type 39 MIM#612020 Peripheral neuropathy;HP:0009830 25299038;18313024 False 3 100;0;0 2.39 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Peripheral neuropathy;HP:0009830 20301791 False 3 100;0;0 2.39 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3B gene POLR3B Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742 Peripheral neuropathy;HP:0009830 PMID: 33417887 False 3 100;0;0 2.39 True ENSG00000013503 ENSG00000013503 HGNC:30348 PPOX gene PPOX Expert Review Green;NHS GMS Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Porphyria variegata, MIM# 176200;Variegate porphyria, childhood-onset, MIM# 620483" Peripheral neuropathy;HP:0009830 9811936;11286631;33159949 False 3 100;0;0 2.39 True ENSG00000143224 ENSG00000143224 HGNC:9280 PRDM12 gene PRDM12 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488;MONDO:0014662;HSAN/SFN Peripheral neuropathy;HP:0009830 26005867;33789102;33010785;32828702 False 3 100;0;0 2.39 True ENSG00000130711 ENSG00000130711 HGNC:13997 PRNP gene PRNP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Prion diseases;peripheral neuropathy;chronic diarrhea;dementia Peripheral neuropathy;HP:0009830 31953922;31907995;29928661;27716661;26926995;24224623;26768678 False 3 50;0;50 2.39 True ENSG00000171867 ENSG00000171867 HGNC:9449 PRPS1 gene PRPS1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot Marie Tooth disease, X linked recessive, 5, 311070;HMSN Peripheral neuropathy;HP:0009830 17701900;24285972;25491489;25182139 False 3 100;0;0 2.39 True ENSG00000147224 ENSG00000147224 HGNC:9462 PRX gene PRX Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dejerine Sottas disease, autosomal recessive, 145900;Charcot Marie Tooth disease, type 4F, 614895;HMSN Peripheral neuropathy;HP:0009830 11133365;11157804;15197604;21079185;22847150;10839370;32460404;31523542;31426691 False 3 100;0;0 2.39 True ENSG00000105227 ENSG00000105227 HGNC:13797 PTRH2 gene PTRH2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263);Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy Peripheral neuropathy;HP:0009830 25574476;27129381;28328138 False 3 100;0;0 2.39 True ENSG00000141378 ENSG00000141378 HGNC:24265 RAB7A gene RAB7A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2B, MIM# 600882;MONDO:0010949 Peripheral neuropathy;HP:0009830 12545426;17060578;32326241;29130394;25614874 False 3 100;0;0 2.39 True ENSG00000075785 ENSG00000075785 HGNC:9788 REEP1 gene REEP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011;Neuronopathy, distal hereditary motor, type VB MIM#614751;Spastic paraplegia 31, autosomal dominant MIM#610250 Peripheral neuropathy;HP:0009830 27066569;31872057;22703882;29124833 False 3 100;0;0 2.39 True Other ENSG00000068615 ENSG00000068615 HGNC:25786 RETREG1 gene RETREG1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, 613115;HSAN/SFN Peripheral neuropathy;HP:0009830 19838196;24327336;31737055;31596031 False 3 100;0;0 2.39 True ENSG00000154153 ENSG00000154153 HGNC:25964 RFC1 gene RFC1 Expert Review Green;Literature;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Peripheral neuropathy;HP:0009830 30926972;33103729;35883251;36478048;36289003 False 3 67;33;0 2.39 True Other ENSG00000035928 ENSG00000035928 HGNC:9969 RTN2 gene RTN2 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 Peripheral neuropathy;HP:0009830 38527963 False 3 100;0;0 2.39 True ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charlevoix-Saguenay spastic ataxia (MONDO:0010041;MIM#270550) Peripheral neuropathy;HP:0009830 20301432;20876471 False 3 100;0;0 2.39 True ENSG00000151835 ENSG00000151835 HGNC:10519 SARS gene SARS Expert Review Green;Literature;Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic peripheral neuropathy MONDO#0020127, SARS1-related Peripheral neuropathy;HP:0009830 36088542 False 3 67;33;0 2.39 True ENSG00000031698 ENSG00000031698 HGNC:10537 SBF1 gene SBF1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3 , MIM#615284;MONDO:0014117 Peripheral neuropathy;HP:0009830 23749797;23749797;32444983;30039846;28005197 False 3 100;0;0 2.39 True ENSG00000100241 ENSG00000100241 HGNC:10542 SBF1 gene SBF1 Expert Review Green;Expert Review Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3 , MIM#615284;MONDO:0014117 Peripheral neuropathy;HP:0009830 23749797;23749797;32444983;30039846;28005197 False 3 100;0;0 2.39 True ENSG00000100241 ENSG00000100241 HGNC:10542 SBF2 gene SBF2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Charcot Marie Tooth disease, type 4B2, MIM#604563 Peripheral neuropathy;HP:0009830 12554688;15477569;12687498;15304601;31772832;31070812 False 3 100;0;0 2.39 True ENSG00000133812 ENSG00000133812 HGNC:2135 SCN10A gene SCN10A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HSAN/SFN;Episodic pain syndrome, familial, 2, 615551 Peripheral neuropathy;HP:0009830 23115331;33775738;30731422;30554136 False 3 100;0;0 2.39 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN11A gene SCN11A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548;MONDO:0014244 Peripheral neuropathy;HP:0009830 24036948;25118027;30395542;33884296;32831372;30046661 False 3 100;0;0 2.39 True ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythermalgia, primary, MIM# 133020;Insensitivity to pain, congenital, MIM# 243000;Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000;Paroxysmal extreme pain disorder, MIM# 167400;Small fiber neuropathy,MIM# 133020 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000169432 ENSG00000169432 HGNC:10597 SCO2 gene SCO2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850 Peripheral neuropathy;HP:0009830 29351582;31844624;35112411 False 3 100;0;0 2.39 True ENSG00000130489 ENSG00000130489 HGNC:10604 SCYL1 gene SCYL1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719);acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744);Spinocerebellar ataxia, autosomal recessive 21;Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Peripheral neuropathy;HP:0009830 26581903;30531813 False 3 100;0;0 2.39 True ENSG00000142186 ENSG00000142186 HGNC:14372 SEPT9 gene SEPT9 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophy, hereditary neuralgic, MIM# 162100;HMSN Peripheral neuropathy;HP:0009830 16186812;19451530;19939853;19139049 False 3 100;0;0 2.39 True ENSG00000184640 ENSG00000184640 HGNC:7323 SETX gene SETX Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal dHMN/dSMA;Amyotrophic lateral sclerosis 4, juvenile MIM# 602433;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Peripheral neuropathy;HP:0009830 23129421;16644229;30052327 False 3 100;0;0 2.39 True ENSG00000107290 ENSG00000107290 HGNC:445 SH3TC2 gene SH3TC2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal HMSN;Charcot Marie Tooth disease, type 4C, 601596;Mononeuropathy of the median nerve, mild, 613353 Peripheral neuropathy;HP:0009830 19744956;20220177;19744956;20028792 False 3 100;0;0 2.39 True ENSG00000169247 ENSG00000169247 HGNC:29427 SIGMAR1 gene SIGMAR1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Distal spinal muscular atrophy, autosomal recessive 2;dHMN/dSMA;Distal hereditary motor neuropathy of Jerash type (HMNJ) Peripheral neuropathy;HP:0009830 31511340 False 3 100;0;0 2.39 True ENSG00000147955 ENSG00000147955 HGNC:8157 SLC12A6 gene SLC12A6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Andermann syndrome;Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum;Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 Peripheral neuropathy;HP:0009830 31439721 False 3 100;0;0 2.39 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC12A6 gene SLC12A6 Expert Review Green;Other Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068) Peripheral neuropathy;HP:0009830 31439721;27485015;33323309 False 3 100;0;0 2.39 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC25A19 gene SLC25A19 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 Peripheral neuropathy;HP:0009830 20301539 False 3 100;0;0 2.39 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A46 gene SLC25A46 Expert Review Green;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505;Pontocerebellar hypoplasia, type 1E, MIM# 619303" Peripheral neuropathy;HP:0009830 26168012;27543974 False 3 100;0;0 2.39 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC52A2 gene SLC52A2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867) Peripheral neuropathy;HP:0009830 22740598;24253200 False 3 100;0;0 2.39 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1 (MIM#211530);dHMN;Brown-Vialetto-Van Laere syndrome 1;Fazio-Londe disease Peripheral neuropathy;HP:0009830 20206331 False 3 100;0;0 2.39 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A6 gene SLC5A6 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903 Peripheral neuropathy;HP:0009830 35013551 False 3 100;0;0 2.39 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLC5A7 gene SLC5A7 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580;MONDO:0008024 Peripheral neuropathy;HP:0009830 23141292;15173594;29782645;29582019 False 3 100;0;0 2.39 True ENSG00000115665 ENSG00000115665 HGNC:14025 SMN1 gene SMN1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-1, MIM# 253300;Spinal muscular atrophy-2, MIM# 253550;Spinal muscular atrophy-3, MIM# 253400;Spinal muscular atrophy-4, MIM# 271150 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000172062 ENSG00000172062 HGNC:11117 SNAP29 gene SNAP29 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528);Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life Peripheral neuropathy;HP:0009830 33977139 False 3 0;100;0 2.39 True ENSG00000099940 ENSG00000099940 HGNC:11133 SORD gene SORD Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal isolated hereditary neuropathy;Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912 Peripheral neuropathy;HP:0009830 32367058 False 3 100;0;0 2.39 True ENSG00000140263 ENSG00000140263 HGNC:11184 SOX10 gene SOX10 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PCWH Syndrome (MIM#609136;MONDO:0012198);Waardenburg syndrome, type 4C, 613266;Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease;Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584;HMSN Peripheral neuropathy;HP:0009830 15004559 False 3 0;100;0 2.39 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPAST gene SPAST Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant;Spasticity;Hereditary Neuropathies Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Hereditary Neuropathies;axonal Charcot-Marie-Tooth disease type 2X;MONDO:0014726 Peripheral neuropathy;HP:0009830 26556829;33581793 False 3 100;0;0 2.39 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPTAN1 gene SPTAN1 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 Peripheral neuropathy;HP:0009830 33578420;31332438 False 3 100;0;0 2.39 True ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN4 gene SPTBN4 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Peripheral neuropathy;HP:0009830 28540413;29861105 False 3 100;0;0 2.39 False ENSG00000160460 ENSG00000160460 HGNC:14896 SPTLC1 gene SPTLC1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile amyotrophic lateral sclerosis-27, MIM#620285;HSAN/SFN;Hereditary Sensory and Autonomic Neuropathy, Type II;Neuropathy, hereditary sensory and autonomic, type IA, 162400 Peripheral neuropathy;HP:0009830 11242114;11242106;15037712;26681808 False 3 100;0;0 2.39 True ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IC, 613640;MONDO:0013337;HSAN/SFN Peripheral neuropathy;HP:0009830 20920666;23658386;31509666;30866134 False 3 100;0;0 2.39 True ENSG00000100596 ENSG00000100596 HGNC:11278 STUB1 gene STUB1 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768" Peripheral neuropathy;HP:0009830 32342324;32337344 False 3 100;0;0 2.39 False ENSG00000103266 ENSG00000103266 HGNC:11427 SURF1 gene SURF1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency, 256000;HMSN;Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYT2 gene SYT2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myasthenic syndrome, congenital, 7, presynaptic;HMSN Peripheral neuropathy;HP:0009830 25192047;30533528;26519543 False 3 100;0;0 2.39 True ENSG00000143858 ENSG00000143858 HGNC:11510 TECPR2 gene TECPR2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive;HSAN/SFN Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000196663 ENSG00000196663 HGNC:19957 TFG gene TFG Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 Peripheral neuropathy;HP:0009830 25098539;23553329;22883144;31449671;31111683 False 3 100;0;0 2.39 True ENSG00000114354 ENSG00000114354 HGNC:11758 TRIM2 gene TRIM2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2R, MIM# 615490;MONDO:0014208;HMSN Peripheral neuropathy;HP:0009830 23562820;25893792;18687884;32815244;32205255;25893792 False 3 100;0;0 2.39 True ENSG00000109654 ENSG00000109654 HGNC:15974 TRIP4 gene TRIP4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Peripheral neuropathy;HP:0009830 26924529 False 3 100;0;0 2.39 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRPV4 gene TRPV4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN, dHMN/dSMA;Hereditary motor and sensory neuropathy, type IIc, MIM# 606071;Neuronopathy, distal hereditary motor, type VIII, MIM# 600175 Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 True ENSG00000111199 ENSG00000111199 HGNC:18083 TTPA gene TTPA Expert Review Green;NHS GMS;Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia with vitamin E deficiency;Early-onset ataxia and sensory axonal neuropathy similar to Friedreich s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa Peripheral neuropathy;HP:0009830 False 3 100;0;0 2.39 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related MIM#105210;Cardiomyopathy;Amyloidogenic transthyretin amyloidosis;HSAN/SFN Peripheral neuropathy;HP:0009830 20301373;8071954;19180884;24101130 False 3 100;0;0 2.39 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBB3 gene TUBB3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 3A (MIM#600638);Neuropathy Peripheral neuropathy;HP:0009830 20074521;34652576 False 3 50;50;0 2.39 True ENSG00000258947 ENSG00000258947 HGNC:20772 TWNK gene TWNK Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Perrault syndrome (MIM#616138);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286 Peripheral neuropathy;HP:0009830 25254289;25355836;27650058;28178980;35011763 False 3 100;0;0 2.39 True ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type);HMSN Peripheral neuropathy;HP:0009830 False 3 0;100;0 2.39 True ENSG00000025708 ENSG00000025708 HGNC:3148 UBA1 gene UBA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females dHMN/dSMA;Spinal muscular atrophy, X-linked 2, MIM# 301830 Peripheral neuropathy;HP:0009830 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 3 100;0;0 2.39 True ENSG00000130985 ENSG00000130985 HGNC:12469 UCHL1 gene UCHL1 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegenerative disease, MONDO:0005559, UCHL1-related Peripheral neuropathy;HP:0009830 35986737 False 3 100;0;0 2.39 True ENSG00000154277 ENSG00000154277 HGNC:12513 VAPB gene VAPB Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adult proximal spinal muscular atrophy, autosomal dominant;dHMN/dSMA;Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Peripheral neuropathy;HP:0009830 15372378;32162544;28993872;28173107;26566915 False 3 100;0;0 2.39 True ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 Peripheral neuropathy;HP:0009830 25125609;25878907;32165109 False 3 50;50;0 2.39 True Other ENSG00000165280 ENSG00000165280 HGNC:12666 VRK1 gene VRK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Peripheral neuropathy;HP:0009830 31560180;32242460;31178479;31837156;30847374 False 3 100;0;0 2.39 True ENSG00000100749 ENSG00000100749 HGNC:12718 VWA1 gene VWA1 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary motor neuropathy Peripheral neuropathy;HP:0009830 33459760;33693694;33559681 False 3 0;0;0 2.39 True ENSG00000179403 ENSG00000179403 HGNC:30910 WNK1 gene WNK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN/SFN;Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300;MONDO:0024309 Peripheral neuropathy;HP:0009830 15060842;15911806;15455397;16534117 False 3 100;0;0 2.39 True ENSG00000060237 ENSG00000060237 HGNC:14540 XK gene XK Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Peripheral neuropathy;HP:0009830 11761473 False 3 100;0;0 2.39 True ENSG00000047597 ENSG00000047597 HGNC:12811 XRCC1 gene XRCC1 Expert Review Green;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Peripheral neuropathy;HP:0009830 28002403;29472272 False 3 100;0;0 2.39 False ENSG00000073050 ENSG00000073050 HGNC:12828 YARS gene YARS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323;MONDO:0012012 Peripheral neuropathy;HP:0009830 16429158;24354524;31587308;26725087 False 3 100;0;0 2.39 True ENSG00000134684 ENSG00000134684 HGNC:12840 ZFYVE26 gene ZFYVE26 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15 MIM#270700 Peripheral neuropathy;HP:0009830 17661097;19438933 False 3 100;0;0 2.39 True ENSG00000072121 ENSG00000072121 HGNC:20761 CANVAS str RFC1 Expert Review Green;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Peripheral neuropathy;HP:0009830 30926972 False 3 100;0;0 2.39 False ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 AAGGG 0 400 NIID str NOTCH2NL Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronal intranuclear inclusion disease MIM#603472;Oculopharyngodistal myopathy 3 MIM#619473;Tremor, hereditary essential, 6 MIM#618866 Peripheral neuropathy;HP:0009830 31178126;31332381;31819945;33887199;33943039;32250060;31332380;32852534;32989102;34333668 False 3 100;0;0 2.39 True ENSG00000213240 ENSG00000264343 HGNC:31862 1 145209324 145209344 149390803 149390829 GGC 40 60 SCA4_ZFHX3_GGC str ZFHX3 Expert Review Green;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted spinocerebellar ataxia type 4 MONDO:0010847 Peripheral neuropathy;HP:0009830 38035881;38197134 False 3 100;0;0 2.39 True ENSG00000140836 ENSG00000140836 HGNC:777 16 72821594 72821657 72787695 72787758 GGC 30 48