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 AGXT gene AGXT Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, 259900;Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing) 4701948;25363903 False 2 50;50;0 1.508 False ENSG00000172482 ENSG00000172482 HGNC:341 AP1S1 gene AP1S1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome, 609313;Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma 19057675 False 2 0;100;0 1.508 False ENSG00000106367 ENSG00000106367 HGNC:559 APOA1 gene APOA1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy 23730806 False 2 50;50;0 1.508 False ENSG00000118137 ENSG00000118137 HGNC:600 ARHGEF10 gene ARHGEF10 Expert list;Expert Review Amber;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Slowed nerve conduction velocity, AD, 608236 14508709 False 2 43;14;43 1.508 True ENSG00000104728 ENSG00000104728 HGNC:14103 ATL3 gene ATL3 Expert Review;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 24736309;24459106 False 2 60;40;0 1.508 True ENSG00000184743 ENSG00000184743 HGNC:24526 DRP2 gene DRP2 Expert Review;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 29473052;26227883 False 2 25;50;25 1.508 True ENSG00000102385 ENSG00000102385 HGNC:3032 ETFDH gene ETFDH Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, 231680;Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive False 2 50;50;0 1.508 False ENSG00000171503 ENSG00000171503 HGNC:3483 FBXO38 gene FBXO38 Expert Review;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IID, 615575 24207122 False 2 40;60;0 1.508 False ENSG00000145868 ENSG00000145868 HGNC:28844 JAG1 gene JAG1 Expert list;Expert Review Amber Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vocal cord palsy;Peripheral neuropathy PMID: 32065591 False 2 0;100;0 1.508 False Other ENSG00000101384 ENSG00000101384 HGNC:6188 LRP12 gene LRP12 Expert Review Amber;Literature Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Motor axonal neuropathy 39013564;37339631;31332380 False 2 33;33;33 1.508 False ENSG00000147650 ENSG00000147650 HGNC:31708 MYH14 gene MYH14 Expert Review;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 21480433;27875632;30373780 False 2 40;20;40 1.508 True ENSG00000105357 ENSG00000105357 HGNC:23212 PDYN gene PDYN Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 23, 610245;Cerebellar ataxia, sensory-motor axonal neuropathy 21035104 False 2 50;50;0 1.508 False ENSG00000101327 ENSG00000101327 HGNC:8820 PLP1 gene PLP1 Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hereditary Neuropathies False 2 50;25;25 1.508 False ENSG00000123560 ENSG00000123560 HGNC:9086 PNPLA6 gene PNPLA6 Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Childhood onset of slowly progressive spastic paraplegia;progressive distal motor neuropathy beginning in early through late adolescence 24355708 False 2 25;50;25 1.508 False ENSG00000032444 ENSG00000032444 HGNC:16268 PRKCG gene PRKCG Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome;Spinocerebellar ataxia 14, 605361 26633542;29603387 False 2 25;50;25 1.508 False ENSG00000126583 ENSG00000126583 HGNC:9402 PTEN gene PTEN Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, 158350;multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas False 2 50;50;0 1.508 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTRH2 gene PTRH2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263;Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy 25572476;25558065 False 2 0;100;0 1.508 False ENSG00000141378 ENSG00000141378 HGNC:24265 SCARB2 gene SCARB2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure, 254900;Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure) 21670406;19597094 False 2 50;50;0 1.508 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCYL1 gene SCYL1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21, 616719;Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy 26581903 False 2 0;100;0 1.508 False ENSG00000142186 ENSG00000142186 HGNC:14372 SPG7 gene SPG7 Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586;20186691;22571692 False 2 25;25;50 1.508 False ENSG00000197912 ENSG00000197912 HGNC:11237 SUCLA2 gene SUCLA2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 17287286 False 2 0;100;0 1.508 False ENSG00000136143 ENSG00000136143 HGNC:11448 TWNK gene TWNK Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR);Perrault syndrome 5, OMIM:616138 (AR);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) False 2 25;25;50 1.508 True ENSG00000107815 ENSG00000107815 HGNC:1160 VCP gene VCP Expert Review;Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2Y;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 26574898;25125609;25878907 False 2 33;33;33 1.508 True ENSG00000165280 ENSG00000165280 HGNC:12666 XRCC1 gene XRCC1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 29472272;28002403 False 2 0;100;0 1.508 False ENSG00000073050 ENSG00000073050 HGNC:12828 FMR1_CGG str FMR1 NHS GMS;Expert Review;Expert Review Amber Hereditary neuropathy Motor and Sensory Disorders of the PNS 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) Fragile X syndrome, OMIM:300624;Fragile X tremor/ataxia syndrome, OMIM:300623 26212380 False 2 100;0;0 1.508 False ENSG00000102081 ENSG00000102081 HGNC:3775 X 146993569 146993628 147912051 147912110 CGG 55 200 LRP12_CGG str LRP12 Expert Review Amber Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Motor axonal neuropathy 39013564;37339631;31332380 False 2 100;0;0 1.508 False ENSG00000147650 ENSG00000147650 HGNC:31708 8 105601201 105601227 104588973 104588999 CGG 28 50 NOP56_GGCCTG str NOP56 NHS GMS;Expert Review;Expert Review Amber Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 2 100;0;0 1.508 False ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 PPP2R2B_CAG str PPP2R2B NHS GMS;Expert Review;Expert Review Amber Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 16138911 False 2 100;0;0 1.508 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43