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 ALS2 gene ALS2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Primary lateral sclerosis, juvenile, OMIM:606353 25474699;24503148;23881933 False 3 0;0;0 1.74 False ENSG00000003393 ENSG00000003393 HGNC:443 ANG gene ANG Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis 9, 611895;familial amyotrophic lateral sclerosis (ALS9) PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS;PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients;PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population;PMID: 25372031 functional investigation of ANG variants. False 3 0;0;0 1.74 False ENSG00000214274 ENSG00000214274 HGNC:483 DCTN1 gene DCTN1 Expert Review Green;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VIIB, 607641;{Amyotrophic lateral sclerosis, susceptibility to}, 105400;Perry syndrome, 168605 25109764;26954557 False 3 0;0;0 1.74 False ENSG00000204843 ENSG00000204843 HGNC:2711 FIG4 gene FIG4 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 11 OMIM:612577;amyotrophic lateral sclerosis type 11 MONDO:0012945;Charcot-Marie-Tooth disease, type 4J, OMIM:611228;Charcot-Marie-Tooth disease type 4J MONDO:0012640;Yunis Varon syndrome OMIM:216340;Yunis-Varon syndrome MONDO:0008995 PMID: 19118816 False 3 0;0;0 1.74 False ENSG00000112367 ENSG00000112367 HGNC:16873 FUS gene FUS Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal;Amyotrophic Lateral Sclerosis, Dominant False 3 100;0;0 1.74 False ENSG00000089280 ENSG00000089280 HGNC:4010 HNRNPA1 gene HNRNPA1 Expert Review Green;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal False 3 100;0;0 1.74 False ENSG00000135486 ENSG00000135486 HGNC:5031 KIF5A gene KIF5A Expert Review Green;Literature Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Amyotrophic lateral sclerosis, susceptibility to, 25}, OMIM:617921;amyotrophic lateral sclerosis, susceptibility to, 25, MONDO:0060670 29566793;29342275;30581417;33077544;34873335 False 3 100;0;0 1.74 False ENSG00000155980 ENSG00000155980 HGNC:6323 NEK1 gene NEK1 ClinGen;Expert Review Green;Literature;Research Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, susceptibility to, 24, OMIM:617892;amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750 26945885;27455347 False 3 100;0;0 1.74 False ENSG00000137601 ENSG00000137601 HGNC:7744 OPTN gene OPTN Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435 26566915;26503823;26303227;26203661;25943890;25859013;25681989 False 3 0;0;0 1.74 False ENSG00000123240 ENSG00000123240 HGNC:17142 PFN1 gene PFN1 Expert Review Green;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 18, 614808 False 3 50;50;0 1.74 False ENSG00000108518 ENSG00000108518 HGNC:8881 SETX gene SETX Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 22577233;23129421;23881933;17258771 False 3 100;0;0 1.74 False ENSG00000107290 ENSG00000107290 HGNC:445 SIGMAR1 gene SIGMAR1 Expert Review Green;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 16, juvenile, 614373 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 0;0;0 1.74 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC52A2 gene SLC52A2 Expert list;Expert Review Green Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 False 3 100;0;0 1.74 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease False 3 100;0;0 1.74 False ENSG00000101276 ENSG00000101276 HGNC:16187 SOD1 gene SOD1 Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 1, OMIM:105400 23687121;7647793;9817920;7647793;18608106;10809943;12442272;11284995;11127534;23062701;11220750 False 3 100;0;0 1.74 False Other - please provide details in the comments ENSG00000142168 ENSG00000142168 HGNC:11179 SPAST gene SPAST Expert Review Green;Literature;Research Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 16240363;16832076;18401025;33589474 False 3 50;50;0 1.74 False ENSG00000021574 ENSG00000021574 HGNC:11233 TARDBP gene TARDBP Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis 10, with or without FTD, 612069 23881933 False 3 100;0;0 1.74 False ENSG00000120948 ENSG00000120948 HGNC:11571 TBK1 gene TBK1 Expert Review Green;Literature Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis; fronto-temporal dementia 25700176;25803835;26350399;27260353 False 3 100;0;0 1.74 False ENSG00000183735 ENSG00000183735 HGNC:11584 TUBA4A gene TUBA4A Expert Review Green;Literature Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208;amyotrophic lateral sclerosis type 22, MONDO:0014531 25374358;37418012;38884572 False 3 50;50;0 1.74 False ENSG00000127824 ENSG00000127824 HGNC:12407 UBQLN2 gene UBQLN2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders 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) Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 False 3 0;0;0 1.74 False ENSG00000188021 ENSG00000188021 HGNC:12509 VAPB gene VAPB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis 8, 608627 False 3 0;0;0 1.74 False ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954;Amyotrophic Lateral Sclerosis, Dominant;familial amyotrophic lateral sclerosis (ALS14) 27178390;26511028;25618255;25492614;25457024;23881933 False 3 0;0;0 1.74 False ENSG00000165280 ENSG00000165280 HGNC:12666 NEFH gene NEFH Expert list;Expert Review Amber Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to amyotrophic lateral sclerosis (ALS) PMID: 24488689 False 2 0;100;0 1.74 False ENSG00000100285 ENSG00000100285 HGNC:7737 AR gene AR Expert Review;Expert Review Red Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 1 100;0;0 1.74 True Other - please provide details in the comments ENSG00000169083 ENSG00000169083 HGNC:644 ATXN2 gene ATXN2 Expert Review Red;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Other {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 24488689 False 1 0;0;0 1.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 C9orf72 gene C9orf72 Eligibility statement prior genetic testing;Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 21944778;21944779;25638642;27059391;23597494 False 1 0;0;100 1.74 False Other - please provide details in the comments ENSG00000147894 ENSG00000147894 HGNC:28337 CHCHD10 gene CHCHD10 Expert Review Red;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 False 1 0;0;0 1.74 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHMP2B gene CHMP2B Expert Review Red;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, familial, nonspecific, 600795;Amyotrophic lateral sclerosis 17, 614696 "PMID: 20352044 - ""We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.""" False 1 0;0;100 1.74 False Other - please provide details in the comments ENSG00000083937 ENSG00000083937 HGNC:24537 ERBB4 gene ERBB4 Expert Review Red;Radboud University Medical Center, Nijmegen Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 19, 615515 False 1 0;0;100 1.74 False ENSG00000178568 ENSG00000178568 HGNC:3432 GRN gene GRN Expert;Expert Review Red Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.74 False ENSG00000030582 ENSG00000030582 HGNC:4601 HFE gene HFE Literature Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Unknown False 1 0;0;0 1.74 False ENSG00000010704 ENSG00000010704 HGNC:4886 SLC52A1 gene SLC52A1 Expert list;Expert Review Red Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Riboflavin deficiency (condition resembling childhood-onset motor neurone disease) False 1 0;0;0 1.74 False ENSG00000132517 ENSG00000132517 HGNC:30225 UNC13A gene UNC13A Literature Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Unknown 35197628 False 1 0;100;0 1.74 False ENSG00000130477 ENSG00000130477 HGNC:23150 VEGFA gene VEGFA Literature Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Unknown False 1 0;0;0 1.74 False ENSG00000112715 ENSG00000112715 HGNC:12680 AR_CAG str AR Expert Review Green;NHS GMS;Expert list Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders 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 20301508;2062380;11436124 False 3 100;0;0 1.74 True ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 C9orf72_GGGGCC str C9orf72 Expert Review Green;NHS GMS;Expert list Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 3 100;0;0 1.74 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200 NOP56_GGCCTG str NOP56 Expert Review Green;NHS GMS;Expert Review Amyotrophic lateral sclerosis/motor neuron disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 3 0;0;0 1.74 True ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650