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 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