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 ASAH1 gene ASAH1 Expert Review Green;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950 22703880 False 3 100;0;0 3.13 False ENSG00000104763 ENSG00000104763 HGNC:735 BICD2 gene BICD2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 False 3 100;0;0 3.13 False ENSG00000185963 ENSG00000185963 HGNC:17208 CHCHD10 gene CHCHD10 Expert Review Green;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, Jokela type, OMIM:615048 25428574;31261376 False 3 100;0;0 3.13 False ENSG00000250479 ENSG00000250479 HGNC:15559 DYNC1H1 gene DYNC1H1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600 22459677 False 3 100;0;0 3.13 False ENSG00000197102 ENSG00000197102 HGNC:2961 EXOSC3 gene EXOSC3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 22544365 False 3 100;0;0 3.13 False ENSG00000107371 ENSG00000107371 HGNC:17944 IGHMBP2 gene IGHMBP2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI, OMIM:604320 34726235 False 3 100;0;0 3.13 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132740 ENSG00000132740 HGNC:5542 SLC52A2 gene SLC52A2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867;Hereditary sensory and autonomic neuropathy, MONDO:0015364 22740598;22864630;23243084;24253200;30343981;30377535;31868069;32909658;35608644;36186484 False 3 100;0;0 3.13 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 20206331;20920669 False 3 100;0;0 3.13 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101276 ENSG00000101276 HGNC:16187 SMN1 gene SMN1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy 1, OMIM:253300;Spinal muscular atrophy 2, OMIM:253550;Spinal muscular atrophy 3, OMIM:253400;Spinal muscular atrophy 4, OMIM:271150 7813012;32644125;32644120 False 3 100;0;0 3.13 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172062 ENSG00000172062 HGNC:11117 SPG11 gene SPG11 Expert Review Green;UKGTN Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 20110243 False 3 50;50;0 3.13 False ENSG00000104133 ENSG00000104133 HGNC:11226 TRIP4 gene TRIP4 Expert Review Green;Literature Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866;Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209;Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 26924529 False 3 100;0;0 3.13 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRPV4 gene TRPV4 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Distal Congenital Nonprogressive Spinal Muscular Atrophy;Brachyolmia type 3, OMIM:113500 20037588, 20037586, 20037587 False 3 100;0;0 3.13 False ENSG00000111199 ENSG00000111199 HGNC:18083 UBA1 gene UBA1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830 23518311 False 3 100;0;0 3.13 False ENSG00000130985 ENSG00000130985 HGNC:12469 VRK1 gene VRK1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Paediatric motor neuronopathies Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, OMIM:607596 19646678, 27281532 False 3 100;0;0 3.13 False ENSG00000100749 ENSG00000100749 HGNC:12718 AR_CAG str AR Expert Review Green;NHS GMS;Literature Paediatric motor neuronopathies Neurology 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 3.13 False ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 ISCA-37408-Loss region Expert Review Green;ClinGen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies 16963482;22579565;18245392 False 3 0;0;0 3.13 False 2 58912065 62261736 3 60 cnv_loss 2p15p16.1 region (includes BCL11A) Loss ISCA-37420-Loss region Expert Review Green;ClinGen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, OMIM:610443;Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature 25217958;18628315 False 3 0;0;0 3.13 False 17 45627800 46087514 3 60 cnv_loss 17q21.3 recurrent region (includes KANSL1) Loss ISCA-37429-Loss region Expert Review Green;ClinGen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 0;0;0 3.13 False 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37478-Loss region Expert Review Green;ClinGen Paediatric motor neuronopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830 22045295;7611294 False 3 0;0;0 3.13 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss