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 ATM gene ATM Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000149311 ENSG00000149311 HGNC:795 B4GALNT1 gene B4GALNT1 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000135454 ENSG00000135454 HGNC:4117 BAG3 gene BAG3 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000151929 ENSG00000151929 HGNC:939 CCT5 gene CCT5 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000150753 ENSG00000150753 HGNC:1618 COX10 gene COX10 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000006695 ENSG00000006695 HGNC:2260 DCAF8 gene DCAF8 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000132716 ENSG00000132716 HGNC:24891 DDHD1 gene DDHD1 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000100523 ENSG00000100523 HGNC:19714 EMILIN1 gene EMILIN1 Expert Review Amber;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000138080 ENSG00000138080 HGNC:19880 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;dHMN/dSMA Peripheral neuropathy;HP:0009830 False 2 0;100;0 1.19 True ENSG00000107371 ENSG00000107371 HGNC:17944 FAM126A gene FAM126A Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000122591 ENSG00000122591 HGNC:24587 FDX2 gene FDX2 Expert Review;Expert Review Amber Hereditary Neuropathy - complex 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 1.19 True ENSG00000267673 ENSG00000267673 HGNC:30546 GALC gene GALC Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe Disease MIM#245200 Peripheral neuropathy;HP:0009830 20301416;21070211 False 2 0;100;0 1.19 True ENSG00000054983 ENSG00000054983 HGNC:4115 HADHB gene HADHB Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000138029 ENSG00000138029 HGNC:4803 KARS gene KARS Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000065427 ENSG00000065427 HGNC:6215 MFF gene MFF Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000168958 ENSG00000168958 HGNC:24858 PLP1 gene PLP1 Expert Review Amber;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) Pelizaeus-Merzbacher disease (MIM#312080) Peripheral neuropathy;HP:0009830 20301361;11872612 False 2 0;100;0 1.19 True ENSG00000123560 ENSG00000123560 HGNC:9086 PSMC3 gene PSMC3 Expert Review Amber;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000165916 ENSG00000165916 HGNC:9549 SGPL1 gene SGPL1 Expert Review;Expert Review Amber Hereditary Neuropathy - complex 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 1.19 True ENSG00000166224 ENSG00000166224 HGNC:10817 SUCLA2 gene SUCLA2 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000136143 ENSG00000136143 HGNC:11448 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Hereditary Neuropathy - complex 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 1.19 True ENSG00000042088 ENSG00000042088 HGNC:18884 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Hereditary Neuropathy - complex 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 1.19 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400