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 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 1.69 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 1.69 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 1.69 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 1.69 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 1.69 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 1.69 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 1.69 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 1.69 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 1.69 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;0;0 1.69 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 1.69 False ENSG00000112715 ENSG00000112715 HGNC:12680