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 AARS gene AARS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 20045102;26032230, 26392352 False 3 86;14;0 1.508 True ENSG00000090861 ENSG00000090861 HGNC:20 ABCA1 gene ABCA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tangier disease, 205400;Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly;pain, paresthesias, anaesthesia 29582519 False 3 100;0;0 1.508 False ENSG00000165029 ENSG00000165029 HGNC:29 ABHD12 gene ABHD12 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with cerebellar atrophy,612674;Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia 29571850;20797687 False 3 100;0;0 1.508 False ENSG00000100997 ENSG00000100997 HGNC:15868 AGTPBP1 gene AGTPBP1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276;Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy 30420557 False 3 100;0;0 1.508 False ENSG00000135049 ENSG00000135049 HGNC:17258 AIFM1 gene AIFM1 Expert Review;Expert Review Green;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 Cowchock syndrome, OMIM:310490;Combined oxidative phosphorylation deficiency 6, OMIM:300816 3856385 False 3 80;20;0 1.508 True ENSG00000156709 ENSG00000156709 HGNC:8768 APTX gene APTX Emory Genetics Laboratory;Expert Review Green;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;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia;ATAXIA WITH OCULOMOTOR APRAXIA 1 11176957 False 3 75;25;0 1.508 True ENSG00000137074 ENSG00000137074 HGNC:15984 ARHGAP19 gene ARHGAP19 Expert Review Green;Research Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal motor peripheral neuropathy, MONDO:0002316 41086021 False 3 100;0;0 1.508 False Other ENSG00000213390 ENSG00000213390 HGNC:23724 ARSA gene ARSA Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 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 False 3 100;0;0 1.508 False ENSG00000100299 ENSG00000100299 HGNC:713 ATL1 gene ATL1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type ID, 613708 21194679 False 3 86;14;0 1.508 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATM gene ATM Emory Genetics Laboratory;Expert Review Green;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 Ataxia-telangiectasia, OMIM:208900;Hereditary Neuropathies False 3 50;25;25 1.508 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A1 gene ATP1A1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 29499166 False 3 100;0;0 1.508 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP7A gene ATP7A Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN 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 20170900 False 3 86;14;0 1.508 True ENSG00000165240 ENSG00000165240 HGNC:869 B4GALNT1 gene B4GALNT1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, 609195;SPG26;Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy 23746551 False 3 100;0;0 1.508 False ENSG00000135454 ENSG00000135454 HGNC:4117 BAG3 gene BAG3 Emory Genetics Laboratory;Expert Review Green;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6 612954;Cardiomyopathy, dilated, 1HH, 613881 28754666;22734908 False 3 60;20;20 1.508 True ENSG00000151929 ENSG00000151929 HGNC:939 BCKDHB gene BCKDHB Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib, 248600;Maple Syrup Urine Disease;Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath 18855118;11180212 False 3 100;0;0 1.508 False ENSG00000083123 ENSG00000083123 HGNC:987 BICD2 gene BICD2 Expert list;Expert Review Green;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 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 23664116;23664120;25497877;30536747;24482476 False 3 83;17;0 1.508 True ENSG00000185963 ENSG00000185963 HGNC:17208 BSCL2 gene BSCL2 Emory Genetics Laboratory;Expert list;Expert Review Green;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, imprinted status unknown Neuropathy, distal hereditary motor, type VC, OMIM:619112 26392352 False 3 86;14;0 1.508 True ENSG00000168000 ENSG00000168000 HGNC:15832 C12orf65 gene C12orf65 Expert list;Expert Review Green;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 Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035 24198383;28091420 False 3 100;0;0 1.508 True ENSG00000130921 ENSG00000130921 HGNC:26784 C1orf194 gene C1orf194 Expert Review Green;Literature Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, intermediate or demyelinating 31199454;32592472 False 3 50;50;0 1.508 False ENSG00000179902 ENSG00000179902 HGNC:32331 CD59 gene CD59 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300;Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy 23149847;24382084 False 3 100;0;0 1.508 False ENSG00000085063 ENSG00000085063 HGNC:1689 CHCHD10 gene CHCHD10 Expert Review;Expert Review Green;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 Spinal muscular atrophy, Jokela type: 615048 25428574;31261376 False 3 80;20;0 1.508 True ENSG00000250479 ENSG00000250479 HGNC:15559 CNTNAP1 gene CNTNAP1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, 618186 False 3 100;0;0 1.508 False ENSG00000108797 ENSG00000108797 HGNC:8011 COA7 gene COA7 Expert Review Green;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, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 2971817 False 3 100;0;0 1.508 False ENSG00000162377 ENSG00000162377 HGNC:25716 COX6A1 gene COX6A1 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate D, 616039 26302975;25152455 False 3 83;17;0 1.508 True ENSG00000111775 ENSG00000111775 HGNC:2277 CPOX gene CPOX Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892 8008008;11074238;11309681;21103937;24353603;24156084;35228944;35584894;38940544 False 3 100;0;0 1.508 False ENSG00000080819 ENSG00000080819 HGNC:2321 CTDP1 gene CTDP1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) 14517542;24690360;16194727 False 3 100;0;0 1.508 True ENSG00000060069 ENSG00000060069 HGNC:2498 CYP27A1 gene CYP27A1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy;SNCV described in a minority of patients 22878431 False 3 100;0;0 1.508 False ENSG00000135929 ENSG00000135929 HGNC:2605 DARS2 gene DARS2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105;Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings 28334938 False 3 100;0;0 1.508 False ENSG00000117593 ENSG00000117593 HGNC:25538 DCTN1 gene DCTN1 Emory Genetics Laboratory;Expert list;Expert Review Green;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, imprinted status unknown {Amyotrophic lateral sclerosis, susceptibility to}, 105400;Neuropathy, distal hereditary motor, type VIIB 607641;Perry syndrome, 168605 28251916;24627108;27025386 False 3 83;0;17 1.508 False ENSG00000204843 ENSG00000204843 HGNC:2711 DEGS1 gene DEGS1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 18, 618404;Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition 30620338;30620337 False 3 100;0;0 1.508 False ENSG00000143753 ENSG00000143753 HGNC:13709 DNAJB2 gene DNAJB2 Emory Genetics Laboratory;Expert list;Expert Review Green;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 26752306;25274842 False 3 67;33;0 1.508 False ENSG00000135924 ENSG00000135924 HGNC:5228 DNAJC3 gene DNAJC3 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192;Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus 25466870;28940199;32738013;33486469;34654017 False 3 67;33;0 1.508 False ENSG00000102580 ENSG00000102580 HGNC:9439 DNM2 gene DNM2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, dominant intermediate B, 606482; Myopathy, centronuclear, 160150;Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368;Charcot Marie Tooth disease, axonal, type 2M, 606482;Charcot-Marie-Tooth, Intermediate ;Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482;Charcot-Marie-Tooth, Intermediate 15731758 False 3 86;14;0 1.508 True ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT1 gene DNMT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type IE, 614116;Neuropathy, hereditary sensory, type IE, 614116;Dementia, Deafness, and Sensory Neuropathy 21532572;31984424 False 3 83;17;0 1.508 True ENSG00000130816 ENSG00000130816 HGNC:2976 DST gene DST Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Sensory and Autonomic Neuropathy, Type VI;?Neuropathy, hereditary sensory and autonomic, type VI 30371979;28468842 False 3 60;0;40 1.508 True ENSG00000151914 ENSG00000151914 HGNC:1090 DYNC1H1 gene DYNC1H1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, axonal, type 20, 614228;Mental retardation, autosomal dominant 13, 614563;Spinal muscular atrophy, lower extremity predominant, AD, 158600 21820100;26392352 False 3 86;14;0 1.508 True ENSG00000197102 ENSG00000197102 HGNC:2961 EGR2 gene EGR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 1D, 607678;Charcot-Marie-Tooth, Type 1 9537424 False 3 86;14;0 1.508 True ENSG00000122877 ENSG00000122877 HGNC:3239 ELP1 gene ELP1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, OMIM:223900 26392352 False 3 83;17;0 1.508 True ENSG00000070061 ENSG00000070061 HGNC:5959 ERCC6 gene ERCC6 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, 133540;Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities False 3 100;0;0 1.508 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, 216400;Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities False 3 100;0;0 1.508 False ENSG00000049167 ENSG00000049167 HGNC:3439 FAH gene FAH Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, 276700;Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP False 3 100;0;0 1.508 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM126A gene FAM126A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 5, 610532;Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV 16951682 False 3 100;0;0 1.508 False ENSG00000122591 ENSG00000122591 HGNC:24587 FBLN5 gene FBLN5 Expert Review;Expert Review Green;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, demyelinating, type 1H, OMIM:619764;Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895 False 3 75;25;0 1.508 True ENSG00000140092 ENSG00000140092 HGNC:3602 FGD4 gene FGD4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth, Type 4 ;Charcot Marie Tooth disease, type 4H, 609311;Charcot-Marie-Tooth, Type 4;Charcot Marie Tooth disease, type 4H, 609311 17564959;15744041 False 3 86;14;0 1.508 True ENSG00000139132 ENSG00000139132 HGNC:19125 FIG4 gene FIG4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Yunis Varon syndrome, 216340;Yunis Varon syndrome, 216340;Amyotrophic lateral sclerosis 11, 612577;Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577 17572665 False 3 88;12;0 1.508 True ENSG00000112367 ENSG00000112367 HGNC:16873 FLVCR1 gene FLVCR1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033;Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI 21070897 False 3 100;0;0 1.508 False ENSG00000162769 ENSG00000162769 HGNC:24682 FXN gene FXN Emory Genetics Laboratory;Expert Review Green;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 Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 80;0;20 1.508 False ENSG00000165060 ENSG00000165060 HGNC:3951 GALC gene GALC Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 False 3 100;0;0 1.508 False ENSG00000054983 ENSG00000054983 HGNC:4115 GAN gene GAN Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, OMIM:256850 1106248 False 3 100;0;0 1.508 True ENSG00000261609 ENSG00000261609 HGNC:4137 GARS gene GARS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type V, 600794;Neuropathy, distal hereditary motor, type V, 600794;Charcot Marie Tooth disease, type 2D, 601472 29648643 False 3 86;14;0 1.508 True ENSG00000106105 ENSG00000106105 HGNC:4162 GBA2 gene GBA2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS 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 23332916 False 3 100;0;0 1.508 False ENSG00000070610 ENSG00000070610 HGNC:18986 GDAP1 gene GDAP1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN 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 Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 11743579;2937239 False 3 86;14;0 1.508 True ENSG00000104381 ENSG00000104381 HGNC:15968 GJB1 gene GJB1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN 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) Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 ;Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800;Charcot-Marie-Tooth, X-linked;Charcot-Marie-Tooth, X-linked 8266101 False 3 86;14;0 1.508 True ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 44, autosomal recessive, 613206;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 False 3 50;50;0 1.508 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS 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) Cardiomyopathy False 3 80;20;0 1.508 True ENSG00000102393 ENSG00000102393 HGNC:4296 GNB4 gene GNB4 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate F, 615185;Charcot Marie Tooth disease, dominant intermediate F, 615185 28642160;27908631;23434117 False 3 83;17;0 1.508 False ENSG00000114450 ENSG00000114450 HGNC:20731 HADHA gene HADHA Expert list;Expert Review Green;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 Trifunctional protein deficiency, 609015 False 3 75;0;25 1.508 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert list;Expert Review Green;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 Trifunctional protein deficiency, 609015 False 3 75;0;25 1.508 False ENSG00000138029 ENSG00000138029 HGNC:4803 HARS gene HARS Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 80;20;0 1.508 True ENSG00000170445 ENSG00000170445 HGNC:4816 HINT1 gene HINT1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 80;20;0 1.508 True ENSG00000169567 ENSG00000169567 HGNC:4912 HK1 gene HK1 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285 False 3 80;20;0 1.508 True ENSG00000156515 ENSG00000156515 HGNC:4922 HMBS gene HMBS Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, 176000;AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy False 3 100;0;0 1.508 False ENSG00000256269 ENSG00000256269 HGNC:4982 HSPB1 gene HSPB1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type IIB, 608634; Neuropathy, distal hereditary motor, type IIB, 608634;Charcot Marie Tooth disease, axonal, type 2F, 606595 15122254;28379183 False 3 86;14;0 1.508 True ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590;Neuropathy, distal hereditary motor, type IIA, 158590 28780615;23389032 False 3 86;14;0 1.508 True ENSG00000152137 ENSG00000152137 HGNC:30171 IARS2 gene IARS2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007;Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy 25130867;28328135;30041933;30419932 False 3 100;0;0 1.508 False ENSG00000067704 ENSG00000067704 HGNC:29685 IGHMBP2 gene IGHMBP2 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2S 616155;Neuronopathy, distal hereditary motor, type VI, 604320 26392352;34726235 False 3 86;14;0 1.508 True ENSG00000132740 ENSG00000132740 HGNC:5542 INF2 gene INF2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, dominant intermediate E, 614455 False 3 80;20;0 1.508 True ENSG00000203485 ENSG00000203485 HGNC:23791 KCNA2 gene KCNA2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.508 False ENSG00000177301 ENSG00000177301 HGNC:6220 KIF1A gene KIF1A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy, hereditary sensory, type IIC, OMIM:614213;Spastic paraplegia 30, autosomal dominant, OMIM:610357;Spastic paraplegia 30, autosomal recessive, OMIM:610357;NESCAV syndrome, OMIM:614255 False 3 83;17;0 1.508 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF5A gene KIF5A Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Neuropathies;Spastic paraplegia 10, autosomal dominant False 3 80;20;0 1.508 True ENSG00000155980 ENSG00000155980 HGNC:6323 LITAF gene LITAF Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 1C, 601098 ;Charcot Marie Tooth disease, type 1C, 601098 28211240 False 3 86;14;0 1.508 True ENSG00000189067 ENSG00000189067 HGNC:16841 LMNA gene LMNA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1A, 115200;Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001;Charcot Marie Tooth disease, type 2B1, 605588;Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670;Emery Dreifuss muscular dystrophy 2, AD, 181350; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001;Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Lipodystrophy, familial partial, 2, 151660;Lipodystrophy, familial partial, 2, 151660;Emery Dreifuss muscular dystrophy 3, AR, 181350; Emery Dreifuss muscular dystrophy 3, AR, 181350; Emery Dreifuss muscular dystrophy 2, AD, 181350;Cardiomyopathy, dilated, 1A, 115200 11799477 False 3 86;14;0 1.508 True ENSG00000160789 ENSG00000160789 HGNC:6636 LRSAM1 gene LRSAM1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Toothe disease, axonal, type 2P, 614436;Charcot Marie Toothe disease, axonal, type 2P, 614436 22781092;28335037 False 3 83;17;0 1.508 True ENSG00000148356 ENSG00000148356 HGNC:25135 LYST gene LYST Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, 214500;Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy 27669550 False 3 100;0;0 1.508 False ENSG00000143669 ENSG00000143669 HGNC:1968 MCM3AP gene MCM3AP Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 32202298 False 3 100;0;0 1.508 False ENSG00000160294 ENSG00000160294 HGNC:6946 MFN2 gene MFN2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 False 3 86;14;0 1.508 True ENSG00000116688 ENSG00000116688 HGNC:16877 MMACHC gene MMACHC Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400;Onset infancy to adulthood;thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12 20610126 False 3 100;0;0 1.508 False ENSG00000132763 ENSG00000132763 HGNC:24525 MME gene MME Expert Review Green;London North GLH;NHS GMS;Other Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017 26991897;27588448;33144514 False 3 75;25;0 1.508 True ENSG00000196549 ENSG00000196549 HGNC:7154 MORC2 gene MORC2 Expert Review Green;Literature;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, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090 26497905;26659848 False 3 67;33;0 1.508 False ENSG00000133422 ENSG00000133422 HGNC:23573 MPV17 gene MPV17 Expert Review;Expert Review Green;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 6 (hepatocerebral type) False 3 75;25;0 1.508 True ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 2I, 607677;Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2J, 607736; Roussy Levy syndrome, 180800;Charcot Marie Tooth disease, type 2J, 607736;Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, type 2I, 607677;Charcot Marie Tooth disease, dominant intermediate D, 607791; Dejerine Sottas disease, 145900;Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, dominant intermediate D, 607791; Neuropathy, congenital hypomyelinating, 605253;Neuropathy, congenital hypomyelinating, 605253 False 3 86;14;0 1.508 True ENSG00000158887 ENSG00000158887 HGNC:7225 MT-ATP6 gene MT-ATP6 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MITOCHONDRIAL False 3 75;25;0 1.508 True ENSG00000198899 ENSG00000198899 HGNC:7414 MTMR2 gene MTMR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, 601382 28509084;10802647 False 3 86;14;0 1.508 True ENSG00000087053 ENSG00000087053 HGNC:7450 MT-RNR1 gene MT-RNR1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MITOCHONDRIAL Parkinsonism, deafness, and sensory-motor axonal neuropathy False 3 100;0;0 1.508 False ENSG00000211459 ENSG00000211459 HGNC:7470 MT-TL1 gene MT-TL1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MITOCHONDRIAL Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy False 3 100;0;0 1.508 False ENSG00000209082 ENSG00000209082 HGNC:7490 MTTP gene MTTP Emory Genetics Laboratory;Expert Review Green;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;Abetalipoproteinemia, 200100 2991816 False 3 50;25;25 1.508 False ENSG00000138823 ENSG00000138823 HGNC:7467 NAGA gene NAGA Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, 609242;Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI 15136691 False 3 100;0;0 1.508 False ENSG00000198951 ENSG00000198951 HGNC:7631 NDC1 gene NDC1 Expert Review Green;Literature Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, OMIM:621328;neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MONDO:0979875 39003500 False 3 100;0;0 1.508 False ENSG00000058804 ENSG00000058804 HGNC:25525 NDRG1 gene NDRG1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4D, 601455;Charcot Marie Tooth disease, type 4D, 601455 28776325;10831399 False 3 86;14;0 1.508 True ENSG00000104419 ENSG00000104419 HGNC:7679 NEFH gene NEFH Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 False 3 100;0;0 1.508 False ENSG00000100285 ENSG00000100285 HGNC:7737 NEFL gene NEFL Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 2E, 607684;Charcot Marie Tooth disease, type 1F, 607734; Charcot Marie Tooth disease, type 1F, 607734;Charcot-Marie-Tooth disease, dominant intermediate G, 617882 23618875;10841809 False 3 86;14;0 1.508 True ENSG00000104725 ENSG00000277586 HGNC:7739 NGF gene NGF Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type V, 608654;Hereditary Sensory and Autonomic Neuropathy, Type V;Neuropathy, hereditary sensory and autonomic, type V, 608654 ;Hereditary Sensory and Autonomic Neuropathy, Type V 1317267;14976160 False 3 86;14;0 1.508 True ENSG00000134259 ENSG00000134259 HGNC:7808 NTRK1 gene NTRK1 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Insensitivity to pain, congenital, with anhidrosis 28940190 False 3 83;17;0 1.508 True ENSG00000198400 ENSG00000198400 HGNC:8031 OPA1 gene OPA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy plus syndrome, OMIM:125250;Behr syndrome, OMIM:210000 16240368;18065439;18158317;21112924;20157015;25012220;25146916 False 3 100;0;0 1.508 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 3 with cataract, 165300;3-methylglutaconic aciduria, type III, 258501;Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction False 3 100;0;0 1.508 False ENSG00000125741 ENSG00000125741 HGNC:8142 PDHA1 gene PDHA1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 3 67;0;33 1.508 True ENSG00000131828 ENSG00000131828 HGNC:8806 PEX10 gene PEX10 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described;Peroxisome biogenesis disorder 6A (Zellweger), 614870;Peroxisome biogenesis disorder 6B, 614871 27230853;20695019 False 3 100;0;0 1.508 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX7 gene PEX7 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;Refsum disease False 3 80;20;0 1.508 True ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies False 3 80;0;20 1.508 False ENSG00000107537 ENSG00000107537 HGNC:8940 PLEKHG5 gene PLEKHG5 Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate C, 615376;Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 23844677;17564964 False 3 83;17;0 1.508 True ENSG00000171680 ENSG00000171680 HGNC:29105 PMM2 gene PMM2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, 212065;Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy 9140401 False 3 100;0;0 1.508 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMP2 gene PMP2 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 False 3 100;0;0 1.508 False ENSG00000147588 ENSG00000147588 HGNC:9117 PMP22 gene PMP22 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, inflammatory demyelinating, 139393;Charcot Marie Tooth disease, type 1A, 118220; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Dejerine Sottas disease, 145900;Dejerine Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500;Neuropathy, recurrent, with pressure palsies, 162500;Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393 False 3 86;14;0 1.508 True ENSG00000109099 ENSG00000109099 HGNC:9118 PNKP gene PNKP Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Charcot-Marie-Tooth disease, type 2B2 605589;Ataxia-oculomotor apraxia 4 OMIM:616267;Microcephaly, seizures, and developmental delay OMIM:613402 30039206 False 3 75;25;0 1.508 False ENSG00000039650 ENSG00000039650 HGNC:9154 POLG gene POLG Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy;sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO);Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA depletion syndrome 4B (MNGIE type);Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE);Progressive external ophthalmoplegia, autosomal dominant 1;Progressive external ophthalmoplegia, autosomal recessive 1 False 3 100;0;0 1.508 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694;Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications;Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain 28459997 False 3 100;0;0 1.508 False ENSG00000148606 ENSG00000148606 HGNC:30074 PPOX gene PPOX Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Porphyria variegata, 176200;Skin photosensitivity. Acute episodes similar to AIP 8290408;10870850;11286631 False 3 100;0;0 1.508 False ENSG00000143224 ENSG00000143224 HGNC:9280 PRDM12 gene PRDM12 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488;congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 False 3 75;25;0 1.508 True ENSG00000130711 ENSG00000130711 HGNC:13997 PRNP gene PRNP Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 24224623 False 3 75;0;25 1.508 True ENSG00000171867 ENSG00000171867 HGNC:9449 PRPS1 gene PRPS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN 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) Charcot Marie Tooth disease, X linked recessive, 5, 311070 24285972;17701900 False 3 86;14;0 1.508 True ENSG00000147224 ENSG00000147224 HGNC:9462 PRX gene PRX Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4F, OMIM:614895;Dejerine-Sottas disease, OMIM:145900 10848494;11133365;11157804;12112076;25628743;26059842;35810435;37470010 False 3 86;14;0 1.508 False ENSG00000105227 ENSG00000105227 HGNC:13797 PTPN11 gene PTPN11 Emory Genetics Laboratory;Expert Review Green;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 Cardiomyopathy;Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus 26952712;26337637;25884655 False 3 50;25;25 1.508 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAB7A gene RAB7A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;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, imprinted status unknown Charcot-Marie-Tooth disease, type 2B, 600882 26791407 False 3 86;14;0 1.508 True ENSG00000075785 ENSG00000075785 HGNC:9788 RCC1 gene RCC1 Expert list;Expert Review Green Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe, acute-onset axonal neuropathy following infection 40683276 False 3 100;0;0 1.508 False ENSG00000180198 ENSG00000180198 HGNC:1913 REEP1 gene REEP1 Emory Genetics Laboratory;Expert list;Expert Review Green;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 VB, 614751;Spastic paraplegia 31, autosomal dominant 610250;Cardiomyopathy 19034539;22703882 False 3 86;14;0 1.508 True ENSG00000068615 ENSG00000068615 HGNC:25786 RETREG1 gene RETREG1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Sensory and Autonomic Neuropathy, Type II;Hereditary Sensory and Autonomic Neuropathy, Type II ;Neuropathy, hereditary sensory and autonomic, type IIB, 613115 ;Neuropathy, hereditary sensory and autonomic, type IIB, 613115 30373780;19838196 False 3 71;14;14 1.508 True ENSG00000154153 ENSG00000154153 HGNC:25964 SACS gene SACS Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies False 3 100;0;0 1.508 False ENSG00000151835 ENSG00000151835 HGNC:10519 SBF1 gene SBF1 Expert Review;Expert Review Green;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 Charcot-Marie-Tooth disease, type 4B3, 615284 28005197;23749797;21210780;24799518 False 3 83;17;0 1.508 False ENSG00000100241 ENSG00000100241 HGNC:10542 SBF2 gene SBF2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4B2, 604563;Charcot Marie Tooth disease, type 4B2, 604563 17855448;12554688 False 3 86;14;0 1.508 True ENSG00000133812 ENSG00000133812 HGNC:2135 SCN10A gene SCN10A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 2, 615551 False 3 100;0;0 1.508 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN11A gene SCN11A Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic pain syndrome, familial, 3, 615552;Neuropathy, hereditary sensory and autonomic, type VII, 615548;CONGENITAL INABILITY TO EXPERIENCE PAIN False 3 80;20;0 1.508 True ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A Emory Genetics Laboratory;Expert list;Expert Review Green;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 Hereditary Neuropathies 26392352 False 3 83;17;0 1.508 True ENSG00000169432 ENSG00000169432 HGNC:10597 SEPT9 gene SEPT9 Expert list;Expert Review Green;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 Amyotrophy, hereditary neuralgic;Neuralgic amyotrophy 16186812;19451530 False 3 83;17;0 1.508 True ENSG00000184640 ENSG00000184640 HGNC:7323 SETX gene SETX Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002;Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 25802885;25025039 False 3 80;0;20 1.508 True ENSG00000107290 ENSG00000107290 HGNC:445 SH3TC2 gene SH3TC2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C, OMIM:601596;Mononeuropathy of the median nerve, mild, OMIM:613353 19805030 False 3 86;14;0 1.508 True ENSG00000169247 ENSG00000169247 HGNC:29427 SIGMAR1 gene SIGMAR1 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls;PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile;PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion;PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family. False 3 75;25;0 1.508 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC12A6 gene SLC12A6 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;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 Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068;Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000 12368912;31439721;27485015;16606917;17893295;21628467 False 3 100;0;0 1.508 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC25A19 gene SLC25A19 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710;Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy 19798730 False 3 100;0;0 1.508 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A46 gene SLC25A46 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, 616505;Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy 26168012 False 3 100;0;0 1.508 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC52A2 gene SLC52A2 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2;BVVL False 3 80;20;0 1.508 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal dHMN; Brown-Vialetto-Van Laere syndrome 1;Fazio-Londe disease 20206331 False 3 50;50;0 1.508 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A7 gene SLC5A7 Expert Review;Expert Review Green;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 VIIA 29782645;23141292 False 3 80;20;0 1.508 False ENSG00000115665 ENSG00000115665 HGNC:14025 SMN1 gene SMN1 Expert list;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-3, OMIM:253400;Spinal muscular atrophy-4, OMIM:271150;Spinal muscular atrophy-2, OMIM:253550;Spinal muscular atrophy-1, OMIM:253300 32644125;32644120 False 3 80;20;0 1.508 True ENSG00000172062 ENSG00000172062 HGNC:11117 SORD gene SORD Expert list;Expert Review Green Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912;sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055 32367058;33314640;33397963 False 3 100;0;0 1.508 False ENSG00000140263 ENSG00000140263 HGNC:11184 SOX10 gene SOX10 Expert list;Expert Review Green;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, imprinted status unknown Waardenburg syndrome, type 4C, 613266;PCWH syndrome, 609136;Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584;Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease 21898658 False 3 50;50;0 1.508 False ENSG00000100146 ENSG00000100146 HGNC:11190 SPAST gene SPAST Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 28572275;39731306 False 3 75;0;25 1.508 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Emory Genetics Laboratory;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies;axonal Charcot-Marie-Tooth disease type 2X 26556829 False 3 75;25;0 1.508 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPTBN4 gene SPTBN4 Expert Review Green;Literature Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;28940097;29861105;31230720;31857255;32672909 False 3 100;0;0 1.508 False ENSG00000160460 ENSG00000160460 HGNC:14896 SPTLC1 gene SPTLC1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Sensory and Autonomic Neuropathy, Type II;Neuropathy, hereditary sensory and autonomic, type IA, 162400 ;Hereditary Sensory and Autonomic Neuropathy, Type II ;Neuropathy, hereditary sensory and autonomic, type IA, 162400 16216550;20097765 False 3 86;14;0 1.508 True ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Sensory and Autonomic Neuropathy, Type IC ;Neuropathy, hereditary sensory and autonomic, type IC, 613640 ;Neuropathy, hereditary sensory and autonomic, type IC, 613640;Hereditary Sensory and Autonomic Neuropathy, Type IC 20920666 False 3 88;12;0 1.508 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100596 ENSG00000100596 HGNC:11278 SURF1 gene SURF1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency, 256000;Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV False 3 100;0;0 1.508 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYT2 gene SYT2 Expert list;Expert Review Green;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, imprinted status unknown Myasthenic syndrome, congenital, 7, presynaptic, 616040 26519543;30533528 False 3 75;25;0 1.508 False ENSG00000143858 ENSG00000143858 HGNC:11510 TFG gene TFG Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484;Spastic paraplegia 57, autosomal recessive, OMIM:615658 17764830;17906970;21836032;22883144;23553329;25098539;23479643;27492651;27601211;29971521;30467354 False 3 80;20;0 1.508 True ENSG00000114354 ENSG00000114354 HGNC:11758 TRIM2 gene TRIM2 Expert Review;Expert Review Green;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 Charcot-Marie-Tooth disease, type 2R, 615490 23562820;25893792;18687884 False 3 80;20;0 1.508 False ENSG00000109654 ENSG00000109654 HGNC:15974 TRPA1 gene TRPA1 Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 1, 615040 False 3 67;33;0 1.508 False ENSG00000104321 ENSG00000104321 HGNC:497 TRPV4 gene TRPV4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary motor and sensory neuropathy, type IIc, 606071 20037586 False 3 86;14;0 1.508 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000111199 ENSG00000111199 HGNC:18083 TTPA gene TTPA Emory Genetics Laboratory;Expert Review Green;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;Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa False 3 50;25;25 1.508 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Emory Genetics Laboratory;Expert list;Expert Review Green;London North GLH;NHS GMS;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related, 105210;FAP;Cardiomyopathy 30878017;31131842;31118583;31111153;30120737 False 3 80;20;0 1.508 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBB3 gene TUBB3 Expert Review;Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638;CFEOM3A False 3 100;0;0 1.508 True ENSG00000258947 ENSG00000258947 HGNC:20772 TYMP gene TYMP Expert list;Expert Review Green;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 1 (MNGIE type) False 3 100;0;0 1.508 True ENSG00000025708 ENSG00000025708 HGNC:3148 VPS13A gene VPS13A Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.508 False ENSG00000197969 ENSG00000197969 HGNC:1908 VRK1 gene VRK1 Expert list;Expert Review Green;London North GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Distal hereditary motor neuropathy 30847374 False 3 100;0;0 1.508 False ENSG00000100749 ENSG00000100749 HGNC:12718 VWA1 gene VWA1 Expert list;Expert Review Green Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor, with myopathic features OMIM:619216;neuropathy, hereditary motor, with myopathic features MONDO:0030977 33559681;33459760;33015062 False 3 100;0;0 1.508 False Other ENSG00000179403 ENSG00000179403 HGNC:30910 WARS gene WARS Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuronopathy, distal hereditary motor, type IX, 617721 28369220 False 3 100;0;0 1.508 False ENSG00000140105 ENSG00000140105 HGNC:12729 WNK1 gene WNK1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 15060842 False 3 86;14;0 1.508 True ENSG00000060237 ENSG00000060237 HGNC:14540 XK gene XK Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females McLeod syndrome with or without chronic granulomatous disease,OMIM:300842;McLeod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy False 3 100;0;0 1.508 False ENSG00000047597 ENSG00000047597 HGNC:12811 XPA gene XPA Expert Review Green;London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, 278700;Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy 2168777 False 3 100;0;0 1.508 False ENSG00000136936 ENSG00000136936 HGNC:12814 YARS gene YARS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, dominant intermediate C, 608323;Charcot Marie Tooth disease, dominant intermediate C, 608323 16429158;19561293 False 3 86;14;0 1.508 True ENSG00000134684 ENSG00000134684 HGNC:12840 ZFYVE26 gene ZFYVE26 Emory Genetics Laboratory;Expert Review Green;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 Spastic paraplegia 15, autosomal recessive, OMIM:270700 False 3 50;25;25 1.508 False ENSG00000072121 ENSG00000072121 HGNC:20761 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 ABCC9 gene ABCC9 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000069431 ENSG00000069431 HGNC:60 ACTC1 gene ACTC1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000077522 ENSG00000077522 HGNC:164 ALDH3A2 gene ALDH3A2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000072210 ENSG00000072210 HGNC:403 ANKRD1 gene ANKRD1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000148677 ENSG00000148677 HGNC:15819 ARL6IP1 gene ARL6IP1 London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 61, autosomal recessive, 615685;Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy 24482476 False 1 0;50;50 1.508 False ENSG00000170540 ENSG00000170540 HGNC:697 BRAF gene BRAF Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000157764 ENSG00000157764 HGNC:1097 C19orf12 gene C19orf12 London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 43, autosomal recessive, 615043;Neurodegeneration with brain iron accumulation 4, 614298;SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs 20039086;23857908 False 1 0;100;0 1.508 False ENSG00000131943 ENSG00000131943 HGNC:25443 CACNB4 gene CACNB4 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000182389 ENSG00000182389 HGNC:1404 CASQ2 gene CASQ2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000118729 ENSG00000118729 HGNC:1513 CAV3 gene CAV3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000182533 ENSG00000182533 HGNC:1529 CCT5 gene CCT5 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840;Sensory Neuropathy with Spastic Paraplegia ;Sensory Neuropathy with Spastic Paraplegia;Neuropathy, hereditary sensory, with spastic paraplegia, 256840 16399879 False 1 0;33;67 1.508 True ENSG00000150753 ENSG00000150753 HGNC:1618 CLTCL1 gene CLTCL1 Expert Review;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 26068709 False 1 0;25;75 1.508 True ENSG00000070371 ENSG00000070371 HGNC:2093 COQ8A gene COQ8A Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;33;67 1.508 False ENSG00000163050 ENSG00000163050 HGNC:16812 CRYAB gene CRYAB Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000109846 ENSG00000109846 HGNC:2389 CSRP3 gene CSRP3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000129170 ENSG00000129170 HGNC:2472 DCAF8 gene DCAF8 Expert Review;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Giant axonal neuropathy 2, autosomal dominant, 610100 24500646 False 1 0;25;75 1.508 True ENSG00000132716 ENSG00000132716 HGNC:24891 DES gene DES Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000175084 ENSG00000175084 HGNC:2770 DGUOK gene DGUOK London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Portal hypertension, noncirrhotic, 617068;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Neonatal liver failure, myopathy, sensory-motor axonal neuropathy 15883261 False 1 0;100;0 1.508 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHH gene DHH NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders False 1 0;67;33 1.508 False ENSG00000139549 ENSG00000139549 HGNC:2865 DHTKD1 gene DHTKD1 NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Charcot Marie Tooth disease, axonal, type 2Q, 615025;2 aminoadipic 2 oxoadipic aciduria, 204750;2 aminoadipic 2 oxoadipic aciduria, 204750 False 1 0;20;80 1.508 False ENSG00000181192 ENSG00000181192 HGNC:23537 DMD gene DMD Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000096696 ENSG00000096696 HGNC:3052 DSTYK gene DSTYK London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, 270750;Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild). False 1 0;50;50 1.508 False ENSG00000133059 ENSG00000133059 HGNC:29043 DTNA gene DTNA Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000134769 ENSG00000134769 HGNC:3057 EMD gene EMD Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000102119 ENSG00000102119 HGNC:3331 ERBB3 gene ERBB3 London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2, 607598;Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder 17709104 False 1 0;100;0 1.508 False ENSG00000065361 ENSG00000065361 HGNC:3431 FA2H gene FA2H London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, 612319;SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed 22146942 False 1 0;100;0 1.508 False ENSG00000103089 ENSG00000103089 HGNC:21197 FGF14 gene FGF14 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000102466 ENSG00000102466 HGNC:3671 FKTN gene FKTN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000106692 ENSG00000106692 HGNC:3622 GAA gene GAA Emory Genetics Laboratory;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy 24627108 False 1 33;33;33 1.508 False ENSG00000171298 ENSG00000171298 HGNC:4065 GATAD1 gene GATAD1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000157259 ENSG00000157259 HGNC:29941 GLE1 gene GLE1 London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, 253310;Congenital arthrogryposis with anterior horn cell disease, 611890;Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death 18204449 False 1 0;100;0 1.508 False ENSG00000119392 ENSG00000119392 HGNC:4315 HOXD10 gene HOXD10 Emory Genetics Laboratory;Expert list;Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, foot deformity of, 192950 ;Charcot Marie Tooth disease, foot deformity of, 192950 15146389 False 1 0;67;33 1.508 False ENSG00000128710 ENSG00000128710 HGNC:5133 HRAS gene HRAS Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSPB3 gene HSPB3 Expert list;Expert Review Red;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, imprinted status unknown ?Neuronopathy, distal hereditary motor, type IIC, 613376 27549087;20142617 False 1 17;17;67 1.508 True ENSG00000169271 ENSG00000169271 HGNC:5248 ITPR1 gene ITPR1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000150995 ENSG00000150995 HGNC:6180 JPH2 gene JPH2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000149596 ENSG00000149596 HGNC:14202 JUP gene JUP Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000173801 ENSG00000173801 HGNC:6207 KARS gene KARS Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth, Intermediate (Dominant).;Charcot-Marie-Tooth, Intermediate (Dominant); Deafness, autosomal recessive 89, 613916 ; Deafness, autosomal recessive 89, 613916;Charcot Marie Tooth disease, recessive intermediate, B, 613641;Deafness, autosomal recessive 89, 613916 23768514;25476837;20920668 False 1 17;33;50 1.508 False ENSG00000065427 ENSG00000065427 HGNC:6215 KCNA1 gene KCNA1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNC3 gene KCNC3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000131398 ENSG00000131398 HGNC:6235 KIF1B gene KIF1B Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth disease, type 2A1, 118210 11389829;25802885 False 1 17;33;50 1.508 True ENSG00000054523 ENSG00000054523 HGNC:16636 KLC2 gene KLC2 London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, optic atrophy, and neuropathy, 609541;SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy 26385635 False 1 0;100;0 1.508 False ENSG00000174996 ENSG00000174996 HGNC:20716 KRAS gene KRAS Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000133703 ENSG00000133703 HGNC:6407 L1CAM gene L1CAM Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000198910 ENSG00000198910 HGNC:6470 LAMA4 gene LAMA4 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000112769 ENSG00000112769 HGNC:6484 LAMP2 gene LAMP2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAS1L gene LAS1L Expert Review;Expert Review Red;NHS GMS;South West GLH 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) 24647030 False 1 0;25;75 1.508 False ENSG00000001497 ENSG00000001497 HGNC:25726 LDB3 gene LDB3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000122367 ENSG00000122367 HGNC:15710 MAP1B gene MAP1B Expert Review Red;Other Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant Axonal Neuropathy-like phenotype, polyneuropathy https://n.neurology.org/content/92/15_Supplement/P3.4-037 False 1 0;0;100 1.508 False ENSG00000131711 ENSG00000131711 HGNC:6836 MAP2K1 gene MAP2K1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000126934 ENSG00000126934 HGNC:6842 MARS gene MARS Expert Review;Expert Review Red;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 Charcot-Marie-Tooth disease, axonal, type 2U, 616280 23729695;29655802 False 1 0;40;60 1.508 True ENSG00000166986 ENSG00000166986 HGNC:6898 MED25 gene MED25 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 2B2, 605589;Charcot Marie Tooth disease, type 2B2, 605589 19290556 False 1 33;17;50 1.508 True ENSG00000104973 ENSG00000104973 HGNC:28845 MRE11 gene MRE11 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000020922 ENSG00000020922 HGNC:7230 MYBPC3 gene MYBPC3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYOZ2 gene MYOZ2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000138347 ENSG00000138347 HGNC:23246 NAGLU gene NAGLU Expert Review;Expert Review Red;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 25818867 False 1 0;50;50 1.508 True ENSG00000108784 ENSG00000108784 HGNC:7632 NEBL gene NEBL Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000078114 ENSG00000078114 HGNC:16932 NEXN gene NEXN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000162614 ENSG00000162614 HGNC:29557 NIPA1 gene NIPA1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Neuropathies;Spastic paraplegia 6, autosomal dominant 22302102;21419568;15643603;15711826;14508710 False 1 33;33;33 1.508 False ENSG00000170113 ENSG00000170113 HGNC:17043 NRAS gene NRAS Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000213281 ENSG00000213281 HGNC:7989 PDK3 gene PDK3 Expert Review Red;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH 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) ?Charcot Marie Tooth disease, X linked dominant, 6, 300905;?Charcot Marie Tooth disease, X linked dominant, 6, 300905 26801680;23297365 False 1 20;60;20 1.508 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDLIM3 gene PDLIM3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000154553 ENSG00000154553 HGNC:20767 PKP2 gene PKP2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000198523 ENSG00000198523 HGNC:9080 PRKAG2 gene PRKAG2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000106617 ENSG00000106617 HGNC:9386 RAF1 gene RAF1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000132155 ENSG00000132155 HGNC:9829 RBM20 gene RBM20 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000203867 ENSG00000203867 HGNC:27424 RIT1 gene RIT1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000143622 ENSG00000143622 HGNC:10023 RYR2 gene RYR2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCP2 gene SCP2 London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, 613724;Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI 16685654 False 1 0;50;50 1.508 False ENSG00000116171 ENSG00000116171 HGNC:10606 SELENOI gene SELENOI London North GLH;NHS GMS Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals False 1 0;50;50 1.508 False ENSG00000138018 ENSG00000138018 HGNC:29361 SGCD gene SGCD Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000170624 ENSG00000170624 HGNC:10807 SIL1 gene SIL1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;33;67 1.508 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC1A3 gene SLC1A3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC52A1 gene SLC52A1 Expert list;Expert Review Red;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, imprinted status unknown dHMN; Riboflavin deficiency;Riboflavin deficiency False 1 0;33;67 1.508 False ENSG00000132517 ENSG00000132517 HGNC:30225 SOS1 gene SOS1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000115904 ENSG00000115904 HGNC:11187 SPART gene SPART Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPG21 gene SPG21 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPTBN2 gene SPTBN2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies 28333917 False 1 0;67;33 1.508 False ENSG00000173898 ENSG00000173898 HGNC:11276 TAZ gene TAZ Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000173991 ENSG00000173991 HGNC:11610 TDP1 gene TDP1 Emory Genetics Laboratory;Expert list;Expert Review Red;NHS GMS;South West GLH;UKGTN Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Neuropathies 12244316 False 1 33;33;33 1.508 False ENSG00000042088 ENSG00000042088 HGNC:18884 TMEM43 gene TMEM43 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC1 gene TNNC1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy False 1 33;33;33 1.508 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000140416 ENSG00000140416 HGNC:12010 TTBK2 gene TTBK2 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTN gene TTN Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;33;67 1.508 False ENSG00000155657 ENSG00000155657 HGNC:12403 VCL gene VCL Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Cardiomyopathy False 1 0;67;33 1.508 False ENSG00000035403 ENSG00000035403 HGNC:12665 WASHC5 gene WASHC5 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies 27164712 False 1 0;67;33 1.508 False ENSG00000164961 ENSG00000164961 HGNC:28984 ZFYVE27 gene ZFYVE27 Emory Genetics Laboratory;NHS GMS;South West GLH Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Hereditary Neuropathies False 1 0;67;33 1.508 False ENSG00000155256 ENSG00000155256 HGNC:26559 AR_CAG str AR NHS GMS;Expert Review Green;Expert Review 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) Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 8469342;15851746;1449253 False 3 100;0;0 1.508 False ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;Expert Review Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 False 3 100;0;0 1.508 True ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert Review Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 1.508 True ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;Expert Review Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 False 3 100;0;0 1.508 True ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS;Expert Review Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 1.508 True ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 Expert Review Green;NHS GMS;Expert Review Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500;autosomal dominant cerebellar ataxia type II, MONDO:0016163 25614072 False 3 100;0;0 1.508 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 FXN_GAA str FXN Expert Review Green;NHS GMS;Expert Review Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 3 100;0;0 1.508 True ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 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 ISCA-37436-Gain region Expert Review Green;ClinGen Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 118220;Charcot-Marie-Tooth neuropathy type 1;distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop;hereditary neuropathy 20301384 False 3 100;0;0 1.508 False 17 14194598 15519638 3 60 cnv_gain 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain ISCA-37436-Loss region Expert Review Green;ClinGen Hereditary neuropathy Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 162500;Charcot-Marie-Tooth disease, type 1A;muscle weakness;repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop;Neuropathy, recurrent, with pressure palsies;mild to moderate peripheral neuropathy 20301566 False 3 100;0;0 1.508 False 17 14194598 15519638 3 60 cnv_loss 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss