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 Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Spastic paralysis, infantile onset ascending, OMIM:607225 11586297; 20018642 False 2 67;33;0 3.6 False ENSG00000003393 ENSG00000003393 HGNC:443 ATP7A gene ATP7A Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, OMIM:309400;Occipital horn syndrome, OMIM:304150;Spinal muscular atrophy, distal, X-linked 3, OMIM:300489 False 2 0;100;0 3.6 False ENSG00000165240 ENSG00000165240 HGNC:869 EXOSC8 gene EXOSC8 Expert Review Amber;Literature;UKGTN Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081;neuronopathy, distal hereditary motor, MONDO:0000075 24989451 False 2 33;67;0 3.6 False ENSG00000120699 ENSG00000120699 HGNC:17035 HSPB1 gene HSPB1 Expert;Expert Review Amber Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIB, OMIM:608634;Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595 15122254 False 2 0;0;100 3.6 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert;Expert Review Amber Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIA, OMIM:158590 15122253;26718575 False 2 0;0;100 3.6 False ENSG00000152137 ENSG00000152137 HGNC:30171 REEP1 gene REEP1 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751 22703882;18321925 False 2 0;50;50 3.6 False ENSG00000068615 ENSG00000068615 HGNC:25786 SETX gene SETX Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 15106121;12023320 False 2 0;100;0 3.6 False ENSG00000107290 ENSG00000107290 HGNC:445 VAPB gene VAPB Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980;Amyotrophic lateral sclerosis 8, OMIM:608627 15372378 False 2 0;33;67 3.6 False ENSG00000124164 ENSG00000124164 HGNC:12649