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 - complex 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 1.19 True ENSG00000094914 ENSG00000094914 HGNC:13666 ABCA1 gene ABCA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000165029 ENSG00000165029 HGNC:29 ABCD1 gene ABCD1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000101986 ENSG00000101986 HGNC:61 ABHD12 gene ABHD12 Expert Review Green;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy - complex 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 1.19 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACOX1 gene ACOX1 Expert list;Expert Review Green Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitchell syndrome, MIM# 618960 Peripheral neuropathy;HP:0009830 32169171 False 3 100;0;0 1.19 True ENSG00000161533 ENSG00000161533 HGNC:119 ADPRHL2 gene ADPRHL2 Expert Review;Expert Review Green Hereditary Neuropathy - complex 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 1.19 True ENSG00000116863 ENSG00000116863 HGNC:21304 AFG3L2 gene AFG3L2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000141385 ENSG00000141385 HGNC:315 AGTPBP1 gene AGTPBP1 Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000135049 ENSG00000135049 HGNC:17258 AGXT gene AGXT Expert Review Green;NHS GMS Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, MIM#259900 Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 True ENSG00000172482 ENSG00000172482 HGNC:341 AIFM1 gene AIFM1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000156709 ENSG00000156709 HGNC:8768 ALDH18A1 gene ALDH18A1 Expert Review Green;NHS GMS;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000059573 ENSG00000059573 HGNC:9722 AMACR gene AMACR Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000242110 ENSG00000242110 HGNC:451 AP1S1 gene AP1S1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000106367 ENSG00000106367 HGNC:559 APOA1 gene APOA1 Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000118137 ENSG00000118137 HGNC:600 APTX gene APTX Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000137074 ENSG00000137074 HGNC:15984 ARL6IP1 gene ARL6IP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000170540 ENSG00000170540 HGNC:697 ARSA gene ARSA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000100299 ENSG00000100299 HGNC:713 ASAH1 gene ASAH1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000104763 ENSG00000104763 HGNC:735 ASCC1 gene ASCC1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000138303 ENSG00000138303 HGNC:24268 ATAD3A gene ATAD3A Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000197785 ENSG00000197785 HGNC:25567 BCKDHB gene BCKDHB Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000083123 ENSG00000083123 HGNC:987 C12orf65 gene C12orf65 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000131943 ENSG00000131943 HGNC:25443 CD59 gene CD59 Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000085063 ENSG00000085063 HGNC:1689 CLP1 gene CLP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 10;dHMN/dSMA Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 False ENSG00000172409 ENSG00000172409 HGNC:16999 CNTNAP1 gene CNTNAP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000108797 ENSG00000108797 HGNC:8011 COA7 gene COA7 Expert Review Green;Literature;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000162377 ENSG00000162377 HGNC:25716 COQ7 gene COQ7 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000167186 ENSG00000167186 HGNC:2244 CPOX gene CPOX Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000080819 ENSG00000080819 HGNC:2321 CTDP1 gene CTDP1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000060069 ENSG00000060069 HGNC:2498 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Cholestanol storage disease Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert Review Green;NHS GMS;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000172817 ENSG00000172817 HGNC:2652 DARS2 gene DARS2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000117593 ENSG00000117593 HGNC:25538 DEGS1 gene DEGS1 Expert list;Expert Review Green Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 True ENSG00000143753 ENSG00000143753 HGNC:13709 DGUOK gene DGUOK Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000114956 ENSG00000114956 HGNC:2858 DHH gene DHH Expert Review;Expert Review Green Hereditary Neuropathy - complex 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 1.19 True ENSG00000139549 ENSG00000139549 HGNC:2865 DNAJC3 gene DNAJC3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000102580 ENSG00000102580 HGNC:9439 ERCC6 gene ERCC6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A MIM#216400 Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 True ENSG00000049167 ENSG00000049167 HGNC:3439 ETFDH gene ETFDH Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000171503 ENSG00000171503 HGNC:3483 EXOSC8 gene EXOSC8 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000120699 ENSG00000120699 HGNC:17035 EXOSC9 gene EXOSC9 Expert Review;Expert Review Green Hereditary Neuropathy - complex 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 1.19 True ENSG00000123737 ENSG00000123737 HGNC:9137 FAH gene FAH Expert Review Green;NHS GMS Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type I, MIM# 276700" Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 True ENSG00000103876 ENSG00000103876 HGNC:3579 FLVCR1 gene FLVCR1 Expert list;Expert Review Green Hereditary Neuropathy - complex 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 1.19 True ENSG00000162769 ENSG00000162769 HGNC:24682 FXN gene FXN Expert Review Green;NHS GMS Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Friedreich ataxia, MIM# 229300" Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 True Other ENSG00000165060 ENSG00000165060 HGNC:3951 GAN gene GAN Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, MIM# 256850 Peripheral neuropathy;HP:0009830 11062483 False 3 100;0;0 1.19 True ENSG00000261609 ENSG00000261609 HGNC:4137 GBA2 gene GBA2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000114480 ENSG00000114480 HGNC:4180 GJC2 gene GJC2 Expert Review Green;NHS GMS Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 2, MIM# 608804" Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000102393 ENSG00000102393 HGNC:4296 GSN gene GSN Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000148180 ENSG00000148180 HGNC:4620 HADHA gene HADHA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000084754 ENSG00000084754 HGNC:4801 HEXA gene HEXA Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000049860 ENSG00000049860 HGNC:4879 HMBS gene HMBS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000256269 ENSG00000256269 HGNC:4982 IARS2 gene IARS2 Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000067704 ENSG00000067704 HGNC:29685 KLC2 gene KLC2 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000174996 ENSG00000174996 HGNC:20716 LYST gene LYST Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000143669 ENSG00000143669 HGNC:1968 MCM3AP gene MCM3AP Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000160294 ENSG00000160294 HGNC:6946 MORC2 gene MORC2 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000133422 ENSG00000133422 HGNC:23573 MTTP gene MTTP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000138823 ENSG00000138823 HGNC:7467 MYH14 gene MYH14 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000105357 ENSG00000105357 HGNC:23212 NAGA gene NAGA Expert Review Green;NHS GMS Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, MIM#609242 Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 True ENSG00000198951 ENSG00000198951 HGNC:7631 NARS gene NARS Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000134440 ENSG00000134440 HGNC:7643 NDC1 gene NDC1 Expert Review Green;Literature Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal triple-A syndrome MONDO:0009279 Peripheral neuropathy;HP:0009830 39003500;19782045 False 3 100;0;0 1.19 True ENSG00000058804 ENSG00000058804 HGNC:25525 NEMF gene NEMF Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000165525 ENSG00000165525 HGNC:10663 NGLY1 gene NGLY1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000151092 ENSG00000151092 HGNC:17646 NIPA1 gene NIPA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 6 Peripheral neuropathy;HP:0009830 21419568 False 3 100;0;0 1.19 True ENSG00000170113 ENSG00000170113 HGNC:17043 NTRK1 gene NTRK1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000198400 ENSG00000198400 HGNC:8031 NUDT2 gene NUDT2 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000164978 ENSG00000164978 HGNC:8049 OPA1 gene OPA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True Other ENSG00000125741 ENSG00000125741 HGNC:8142 PDHA1 gene PDHA1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDXK gene PDXK Expert Review Green;Literature Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Axonal polyneuropathy;optic atrophy Peripheral neuropathy;HP:0009830 32522499;31187503;27604308 False 3 50;50;0 1.19 True ENSG00000160209 ENSG00000160209 HGNC:8819 PDYN gene PDYN Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000101327 ENSG00000101327 HGNC:8820 PEX10 gene PEX10 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000108733 ENSG00000108733 HGNC:8854 PHYH gene PHYH Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Refsum Disease MIM#266500 Peripheral neuropathy;HP:0009830 2433405;20301527 False 3 50;50;0 1.19 True ENSG00000107537 ENSG00000107537 HGNC:8940 PLA2G16 gene PLA2G16 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000176485 ENSG00000176485 HGNC:17825 PLA2G6 gene PLA2G6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000184381 ENSG00000184381 HGNC:9039 PMM2 gene PMM2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000140650 ENSG00000140650 HGNC:9115 PNKP gene PNKP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3B gene POLR3B Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000013503 ENSG00000013503 HGNC:30348 PPOX gene PPOX Expert Review Green;NHS GMS Hereditary Neuropathy - complex 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 1.19 True ENSG00000143224 ENSG00000143224 HGNC:9280 PRNP gene PRNP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000171867 ENSG00000171867 HGNC:9449 PTRH2 gene PTRH2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000141378 ENSG00000141378 HGNC:24265 RFC1 gene RFC1 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True Other ENSG00000035928 ENSG00000035928 HGNC:9969 SACS gene SACS Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000151835 ENSG00000151835 HGNC:10519 SBF1 gene SBF1 Expert Review;Expert Review Green Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3 , MIM#615284;MONDO:0014117 Peripheral neuropathy;HP:0009830 23749797;23749797;32444983;30039846;28005197 False 3 100;0;0 1.19 True ENSG00000100241 ENSG00000100241 HGNC:10542 SCYL1 gene SCYL1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000142186 ENSG00000142186 HGNC:14372 SETX gene SETX Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000107290 ENSG00000107290 HGNC:445 SLC12A6 gene SLC12A6 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC25A19 gene SLC25A19 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A46 gene SLC25A46 Expert list;Expert Review Green Hereditary Neuropathy - complex 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 1.19 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC52A2 gene SLC52A2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A6 gene SLC5A6 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000138074 ENSG00000138074 HGNC:11041 SNAP29 gene SNAP29 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000099940 ENSG00000099940 HGNC:11133 SOX10 gene SOX10 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPAST gene SPAST Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPTBN4 gene SPTBN4 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 False ENSG00000160460 ENSG00000160460 HGNC:14896 STUB1 gene STUB1 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 False ENSG00000103266 ENSG00000103266 HGNC:11427 SURF1 gene SURF1 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000148290 ENSG00000148290 HGNC:11474 TECPR2 gene TECPR2 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive;HSAN/SFN Peripheral neuropathy;HP:0009830 False 3 100;0;0 1.19 False ENSG00000196663 ENSG00000196663 HGNC:19957 TRIP4 gene TRIP4 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000103671 ENSG00000103671 HGNC:12310 TTPA gene TTPA Expert Review Green;NHS GMS;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBB3 gene TUBB3 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000258947 ENSG00000258947 HGNC:20772 TWNK gene TWNK Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000025708 ENSG00000025708 HGNC:3148 UCHL1 gene UCHL1 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000154277 ENSG00000154277 HGNC:12513 XK gene XK Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000047597 ENSG00000047597 HGNC:12811 XRCC1 gene XRCC1 Expert list;Expert Review Green Hereditary Neuropathy - complex 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 1.19 False ENSG00000073050 ENSG00000073050 HGNC:12828 ZFYVE26 gene ZFYVE26 Expert Review Green;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15 MIM#270700 Peripheral neuropathy;HP:0009830 17661097;19438933 False 3 100;0;0 1.19 True ENSG00000072121 ENSG00000072121 HGNC:20761 CANVAS str RFC1 Expert Review Green;Expert list Hereditary Neuropathy - complex 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 1.19 False ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 AAGGG 0 400 NIID str NOTCH2NL Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000213240 ENSG00000264343 HGNC:31862 1 145209324 145209344 149390803 149390829 GGC 40 60 SCA4_ZFHX3_GGC str ZFHX3 Expert Review Green;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000140836 ENSG00000140836 HGNC:777 16 72821594 72821657 72787695 72787758 GGC 30 48