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 ANG gene ANG Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753;MIM#611895) Motor neuron atrophy;HP:0007373 17886298;16501576;18087731;20301623 False 2 100;0;0 2.11 True ENSG00000214274 ENSG00000214274 HGNC:483 CCNF gene CCNF Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Motor neuron atrophy;HP:0007373 29102476;31577344;27080313;28105640;31445393;28852778 False 2 0;100;0 2.11 True ENSG00000162063 ENSG00000162063 HGNC:1591 CLCC1 gene CLCC1 Expert Review Amber;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 Motor neuron atrophy;HP:0007373 37916886;37142673 False 2 0;100;0 2.11 False ENSG00000121940 ENSG00000121940 HGNC:29675 CYLD gene CYLD Expert Review Amber;Literature;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Motor neuron atrophy;HP:0007373 32666117;32666099;32185393 False 2 25;50;25 2.11 True Other ENSG00000083799 ENSG00000083799 HGNC:2584 DNAJC7 gene DNAJC7 Expert Review Amber;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown amyotrophic lateral sclerosis Motor neuron atrophy;HP:0007373 31768050;40802071;35039179;34233860;32897108;37870677;35456894 False 2 33;67;0 2.11 True ENSG00000168259 ENSG00000168259 HGNC:12392 FIG4 gene FIG4 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945;MIM#612577) Motor neuron atrophy;HP:0007373 False 2 100;0;0 2.11 True ENSG00000112367 ENSG00000112367 HGNC:16873 GLT8D1 gene GLT8D1 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis Motor neuron atrophy;HP:0007373 30811981 False 2 50;50;0 2.11 True ENSG00000016864 ENSG00000016864 HGNC:24870 HNRNPA2B1 gene HNRNPA2B1 ClinGen;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 Motor neuron atrophy;HP:0007373 25299611 False 2 0;0;100 2.11 True ENSG00000122566 ENSG00000122566 HGNC:5033 HSPB1 gene HSPB1 Expert Review Amber;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal amyotrophic lateral sclerosis MONDO:0004976 Motor neuron atrophy;HP:0007373 26768280;27492805;32334137 False 2 0;100;0 2.11 True ENSG00000106211 ENSG00000106211 HGNC:5246 LGALSL gene LGALSL ClinGen;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown amyotrophic lateral sclerosis MONDO:0004976 Motor neuron atrophy;HP:0007373 30940688 False 2 0;100;0 2.11 True ENSG00000119862 ENSG00000119862 HGNC:25012 PCDHA9 gene PCDHA9 Expert Review Amber;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal amyotrophic lateral sclerosis MONDO:0004976 Motor neuron atrophy;HP:0007373 38467605 False 2 0;100;0 2.11 True ENSG00000204961 ENSG00000204961 HGNC:8675 PRPH gene PRPH Expert list;Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Motor neuron atrophy;HP:0007373 20363051;15322088;15446584 False 2 0;100;0 2.11 True ENSG00000135406 ENSG00000135406 HGNC:9461 RBMX gene RBMX Expert Review;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related Motor neuron atrophy;HP:0007373 39263607 False 2 0;100;0 2.11 True ENSG00000147274 ENSG00000147274 HGNC:9910 RNF13 gene RNF13 Expert Review Amber;Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis Motor neuron atrophy;HP:0007373 PMID: 35879052 False 2 50;50;0 2.11 True ENSG00000082996 ENSG00000082996 HGNC:10057 SQSTM1 gene SQSTM1 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640" Motor neuron atrophy;HP:0007373 False 2 100;0;0 2.11 True ENSG00000161011 ENSG00000161011 HGNC:11280 SS18L1 gene SS18L1 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis (MONDO:0004976) Motor neuron atrophy;HP:0007373 25888396;24360741;23708140;30976389 False 2 50;50;0 2.11 True ENSG00000184402 ENSG00000184402 HGNC:15592 TAF15 gene TAF15 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis Motor neuron atrophy;HP:0007373 21438137;22065782;27810362;28889094 False 2 0;100;0 2.11 True - ENSG00000270647 HGNC:11547 TIA1 gene TIA1 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133" Motor neuron atrophy;HP:0007373 29235362;29886022;29773329;29699721;29216908;24659297;29457785;28817800 False 2 0;100;0 2.11 True ENSG00000116001 ENSG00000116001 HGNC:11802 UBQLN4 gene UBQLN4 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis Motor neuron atrophy;HP:0007373 28463112;30804504 False 2 0;100;0 2.11 False ENSG00000160803 ENSG00000160803 HGNC:1237 VRK1 gene VRK1 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia;Distal hereditary motor neuropathy;dHMN/dSMA Motor neuron atrophy;HP:0007373 31560180;32242460;31178479;31837156;30847374;34169149;26583493 False 2 0;50;50 2.11 True ENSG00000100749 ENSG00000100749 HGNC:12718