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 ARHGEF10 gene ARHGEF10 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Slowed nerve conduction velocity, AD, 608236;HMSN Peripheral neuropathy;HP:0009830 14508709;21719701;25025039;25275565;25091364 False 2 50;50;0 2.39 True ENSG00000104728 ENSG00000104728 HGNC:14103 ARPC3 gene ARPC3 Expert Review Amber;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease MONDO:0015626 Peripheral neuropathy;HP:0009830 36928819;26166300 False 2 0;100;0 2.39 True ENSG00000111229 ENSG00000111229 HGNC:706 ATM gene ATM Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM#208900;Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated -fetoprotein;Ataxia-telangiectasia syndrome Peripheral neuropathy;HP:0009830 32259893;20301790 False 2 0;50;50 2.39 True ENSG00000149311 ENSG00000149311 HGNC:795 B4GALNT1 gene B4GALNT1 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive (MIM#609195;MONDO:0012213) Peripheral neuropathy;HP:0009830 20301682;23746551 False 2 0;100;0 2.39 True ENSG00000135454 ENSG00000135454 HGNC:4117 BAG3 gene BAG3 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6 (MIM#612954;MONDO:0013061) Peripheral neuropathy;HP:0009830 19085932 False 2 0;100;0 2.39 True ENSG00000151929 ENSG00000151929 HGNC:939 C1orf194 gene C1orf194 Expert Review Amber;Literature;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, intermediate or demyelinating Peripheral neuropathy;HP:0009830 31199454;32592472 False 2 0;100;0 2.39 True ENSG00000179902 ENSG00000179902 HGNC:32331 CCT5 gene CCT5 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840;HMSN Peripheral neuropathy;HP:0009830 16399879;25124038;25345891;33076433;37237456 False 2 0;100;0 2.39 True ENSG00000150753 ENSG00000150753 HGNC:1618 COX10 gene COX10 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) Peripheral neuropathy;HP:0009830 10767350 False 2 0;100;0 2.39 True ENSG00000006695 ENSG00000006695 HGNC:2260 DCAF8 gene DCAF8 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Giant axonal neuropathy 2, autosomal dominant, 610100;HMSN Peripheral neuropathy;HP:0009830 24500646 False 2 0;100;0 2.39 True ENSG00000132716 ENSG00000132716 HGNC:24891 DDHD1 gene DDHD1 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy Peripheral neuropathy;HP:0009830 False 2 0;100;0 2.39 True ENSG00000100523 ENSG00000100523 HGNC:19714 DGAT2 gene DGAT2 Expert Review Amber;Expert Review Amber;Expert Review;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related Peripheral neuropathy;HP:0009830 26786738 False 2 0;100;0 2.39 True ENSG00000062282 ENSG00000062282 HGNC:16940 DHTKD1 gene DHTKD1 Expert Review Green;Expert Review Amber;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot Marie Tooth disease, axonal, type 2Q, 615025;2 aminoadipic 2 oxoadipic aciduria, 204750 Peripheral neuropathy;HP:0009830 23141294;29661920;28902413 False 2 50;50;0 2.39 True ENSG00000181192 ENSG00000181192 HGNC:23537 EMILIN1 gene EMILIN1 Expert Review Amber;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type X, MIM# 620080;Peripheral neuropathy;aortic aneurysm Peripheral neuropathy;HP:0009830 31978608;26462740 False 2 50;50;0 2.39 True ENSG00000138080 ENSG00000138080 HGNC:19880 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;dHMN/dSMA Peripheral neuropathy;HP:0009830 False 2 0;100;0 2.39 True ENSG00000107371 ENSG00000107371 HGNC:17944 FAM126A gene FAM126A Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV;Leukodystrophy, hypomyelinating, 5, 610532 Peripheral neuropathy;HP:0009830 False 2 0;0;100 2.39 True ENSG00000122591 ENSG00000122591 HGNC:24587 FBXO38 gene FBXO38 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IID, 615575;dHMN/dSMA Peripheral neuropathy;HP:0009830 False 2 0;100;0 2.39 True ENSG00000145868 ENSG00000145868 HGNC:28844 FDX2 gene FDX2 Expert Review Amber;Expert Review Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900)" Peripheral neuropathy;HP:0009830 30010796;24281368;28803783 False 2 0;100;0 2.39 True ENSG00000267673 ENSG00000267673 HGNC:30546 GALC gene GALC Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe Disease MIM#245200 Peripheral neuropathy;HP:0009830 20301416;21070211 False 2 0;100;0 2.39 True ENSG00000054983 ENSG00000054983 HGNC:4115 HADHB gene HADHB Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 Peripheral neuropathy;HP:0009830 37388542;36063482;24664533 False 2 0;50;50 2.39 True ENSG00000138029 ENSG00000138029 HGNC:4803 KARS gene KARS Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641;MONDO:0013338) Peripheral neuropathy;HP:0009830 20920668 False 2 0;100;0 2.39 True ENSG00000065427 ENSG00000065427 HGNC:6215 LMNA gene LMNA Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 Peripheral neuropathy;HP:0009830 11799477;28902413 False 2 0;100;0 2.39 True ENSG00000160789 ENSG00000160789 HGNC:6636 MFF gene MFF Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 Peripheral neuropathy;HP:0009830 26783368 False 2 0;0;100 2.39 True ENSG00000168958 ENSG00000168958 HGNC:24858 MYO9B gene MYO9B Expert Review Amber;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related Peripheral neuropathy;HP:0009830 PMID: 36260368 False 2 0;100;0 2.39 True ENSG00000099331 ENSG00000099331 HGNC:7609 NAGLU gene NAGLU Expert Review Green;Expert Review Amber;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 2V, 616491;HSAN/SFN Peripheral neuropathy;HP:0009830 False 2 50;50;0 2.39 True ENSG00000108784 ENSG00000108784 HGNC:7632 PCK2 gene PCK2 Expert Review Amber;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy (MONDO#0005244), PCK2-related Peripheral neuropathy;HP:0009830 36845668 False 2 0;33;67 2.39 True ENSG00000100889 ENSG00000100889 HGNC:8725 PLP1 gene PLP1 Expert Review Amber;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) Pelizaeus-Merzbacher disease (MIM#312080) Peripheral neuropathy;HP:0009830 20301361;11872612 False 2 0;100;0 2.39 True ENSG00000123560 ENSG00000123560 HGNC:9086 PMP2 gene PMP2 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 Peripheral neuropathy;HP:0009830 26257172;26828946;27009151 False 2 33;67;0 2.39 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147588 ENSG00000147588 HGNC:9117 PSMC3 gene PSMC3 Expert Review Amber;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Peripheral neuropathy;HP:0009830 32500975 False 2 0;100;0 2.39 True ENSG00000165916 ENSG00000165916 HGNC:9549 RBM7 gene RBM7 Expert Review Amber;Expert list Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SMA-like spinal motor neuropathy;dHMN/dSMA Peripheral neuropathy;HP:0009830 27193168 False 2 0;100;0 2.39 True ENSG00000076053 ENSG00000076053 HGNC:9904 SGPL1 gene SGPL1 Expert Review Amber;Expert Review Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) Peripheral neuropathy;HP:0009830 28077491;28165339;30274713;28165343 False 2 0;100;0 2.39 True ENSG00000166224 ENSG00000166224 HGNC:10817 SUCLA2 gene SUCLA2 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791;MIM#612073); Leigh -like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy Peripheral neuropathy;HP:0009830 20301762;35235001 False 2 0;50;50 2.39 True ENSG00000136143 ENSG00000136143 HGNC:11448 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Peripheral neuropathy;HP:0009830 31182267;12244316 False 2 0;100;0 2.39 True ENSG00000042088 ENSG00000042088 HGNC:18884 UBA5 gene UBA5 Expert Review Amber;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy Peripheral neuropathy;HP:0009830 32179706;26872069 False 2 0;100;0 2.39 True ENSG00000081307 ENSG00000081307 HGNC:23230 WARS gene WARS Expert Review Amber;Literature;Royal Melbourne Hospital Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IX, MIM#617721 Peripheral neuropathy;HP:0009830 28369220;31321409;31069783 False 2 67;33;0 2.39 True ENSG00000140105 ENSG00000140105 HGNC:12729 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Hereditary Neuropathy_CMT_IsolatedAndComplex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;fasciculations;elevated serum creatine kinase levels;denervation Peripheral neuropathy;HP:0009830 33103729 False 2 0;100;0 2.39 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400