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 AFG3L2 gene AFG3L2 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, OMIM:614487 22022284 False 2 0;100;0 7.45 False ENSG00000141385 ENSG00000141385 HGNC:315 ALDH18A1 gene ALDH18A1 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9A, autosomal dominant, OMIM:601162;hereditary spastic paraplegia 9A, MONDO:0011006;Spastic paraplegia 9B, autosomal recessive, OMIM:616586;autosomal recessive complex spastic paraplegia type 9B, MONDO:0014702 26026163 False 2 0;100;0 7.45 False ENSG00000059573 ENSG00000059573 HGNC:9722 AMPD2 gene AMPD2 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, OMIM:615809;pontocerebellar hypoplasia type 9, MONDO:0014351 27066553 False 2 0;100;0 7.45 False ENSG00000116337 ENSG00000116337 HGNC:469 ARHGEF10 gene ARHGEF10 Expert list;Expert Review Amber;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Slowed nerve conduction velocity, AD, 608236 14508709;21719701;25025039;25275565;25091364 False 2 44;22;33 7.45 False ENSG00000104728 ENSG00000104728 HGNC:14103 CHRNA3 gene CHRNA3 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, OMIM:191800;autonomic nervous system disorder, MONDO:0001292 38192228;37161764;33947782;31708116 False 2 100;0;0 7.45 False ENSG00000080644 ENSG00000080644 HGNC:1957 DEGS1 gene DEGS1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition;Leukodystrophy, hypomyelinating, 18, 618404 30620337;30620338 False 2 50;50;0 7.45 False ENSG00000143753 ENSG00000143753 HGNC:13709 DGUOK gene DGUOK Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Portal hypertension, noncirrhotic, 617068;Neonatal liver failure, myopathy, sensory-motor axonal neuropathy 15883261 False 2 0;100;0 7.45 False ENSG00000114956 ENSG00000114956 HGNC:2858 DSTYK gene DSTYK Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, autosomal recessive, OMIM:270750;hereditary spastic paraplegia 23, MONDO:0010046 False 2 0;100;0 7.45 False ENSG00000133059 ENSG00000133059 HGNC:29043 FBXO38 gene FBXO38 Expert Review;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IID, 615575 24207122 False 2 40;60;0 7.45 False ENSG00000145868 ENSG00000145868 HGNC:28844 GJC2 gene GJC2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804;Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy;Spastic paraplegia 44, autosomal recessive, 613206 False 2 0;100;0 7.45 False ENSG00000198835 ENSG00000198835 HGNC:17494 JAG1 gene JAG1 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vocal cord palsy;Peripheral neuropathy 32065591;25707699 False 2 100;0;0 7.45 False Other ENSG00000101384 ENSG00000101384 HGNC:6188 KCNA2 gene KCNA2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 32, 616366;Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family 27543892 False 2 50;50;0 7.45 False ENSG00000177301 ENSG00000177301 HGNC:6220 KIF21A gene KIF21A Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFEOM;agenesis of the corpus callosum;peripheral neuropathy, MONDO:0005244 22699964;32141982;37921537;39643435;41282472 False 2 50;50;0 7.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000139116 ENSG00000139116 HGNC:19349 LRP12 gene LRP12 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 28, OMIM:620452;amyotrophic lateral sclerosis 28, MONDO:0957538;Oculopharyngodistal myopathy 1, OMIM:164310;oculopharyngodistal myopathy 1, MONDO:0020793 39013564;37339631;31332380 False 2 67;0;33 7.45 False ENSG00000147650 ENSG00000147650 HGNC:31708 MAPK8IP3 gene MAPK8IP3 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443;neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755 37462082;30945334;30612693 False 2 33;67;0 7.45 False ENSG00000138834 ENSG00000138834 HGNC:6884 MFF gene MFF Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086 26783368 False 2 50;50;0 7.45 False ENSG00000168958 ENSG00000168958 HGNC:24858 MT-RNR1 gene MT-RNR1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MITOCHONDRIAL Parkinsonism, deafness, and sensory-motor axonal neuropathy False 2 50;50;0 7.45 False ENSG00000211459 ENSG00000211459 HGNC:7470 MT-TL1 gene MT-TL1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MITOCHONDRIAL Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy False 2 50;50;0 7.45 False ENSG00000209082 ENSG00000209082 HGNC:7490 PRKCG gene PRKCG Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;Spinocerebellar ataxia 14, 605361;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 26633542;29603387 False 2 25;50;25 7.45 False ENSG00000126583 ENSG00000126583 HGNC:9402 PSMC3 gene PSMC3 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354 32500975 False 2 0;100;0 7.45 False ENSG00000165916 ENSG00000165916 HGNC:9549 PTEN gene PTEN Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Emory Genetics Laboratory;Expert Review Amber;London North GLH;NHS GMS;South West GLH Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy;Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus 25884655;26952712;26337637 False 2 25;50;25 7.45 False ENSG00000179295 ENSG00000179295 HGNC:9644 SCYL1 gene SCYL1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology 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 7.45 False ENSG00000142186 ENSG00000142186 HGNC:14372 SOD1 gene SOD1 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626;Amyotrophic lateral sclerosis 1, OMIM:105400 22475618;36316849;39932579 False 2 100;0;0 7.45 False ENSG00000142168 ENSG00000142168 HGNC:11179 SUCLA2 gene SUCLA2 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 17287286 False 2 0;100;0 7.45 False ENSG00000136143 ENSG00000136143 HGNC:11448 TRPA1 gene TRPA1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 1, 615040 False 2 50;50;0 7.45 False ENSG00000104321 ENSG00000104321 HGNC:497 UQCRC1 gene UQCRC1 Expert list;Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinsonism with polyneuropathy, OMIM:619279 33141179 False 2 100;0;0 7.45 False ENSG00000010256 ENSG00000010256 HGNC:12585 VPS13A gene VPS13A Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, 200150;Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK False 2 50;50;0 7.45 False ENSG00000197969 ENSG00000197969 HGNC:1908 XPNPEP3 gene XPNPEP3 Expert Review Amber;Other Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM:613159;Peripheral neuropathy, MONDO:0005244;myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 38035175;40953058 False 2 0;100;0 7.45 False ENSG00000196236 ENSG00000196236 HGNC:28052 XRCC1 gene XRCC1 Expert Review Amber;London North GLH;NHS GMS Hereditary neuropathy or pain disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 29472272;28002403 False 2 0;100;0 7.45 False ENSG00000073050 ENSG00000073050 HGNC:12828 FGF14_TTC str FGF14 Expert Review Amber Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 36516086;36493768;37267898 False 2 50;50;0 7.45 False ENSG00000102466 ENSG00000102466 HGNC:3671 13 102161576 102161726 TTC 249 300 LRP12_CGG str LRP12 Expert Review Amber;Literature Hereditary neuropathy or pain disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CMT2, HMN 39013564 False 2 100;0;0 7.45 False ENSG00000147650 ENSG00000147650 HGNC:31708 8 105601201 105601227 104588973 104588999 CGG 28 50