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 AARS gene AARS Expert;Expert Review Red Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders False 1 0;0;100 3.6 False ENSG00000090861 ENSG00000090861 HGNC:20 AR gene AR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Other Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 20301508;2062380;11436124 False 1 67;0;33 3.6 False Other - please provide details in the comments ENSG00000169083 ENSG00000169083 HGNC:644 BSCL2 gene BSCL2 Expert;Expert Review Red Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders 14981520 False 1 100;0;0 3.6 False ENSG00000168000 ENSG00000168000 HGNC:15832 DCTN1 gene DCTN1 Expert;Expert Review Red Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders False 1 0;0;0 3.6 False ENSG00000204843 ENSG00000204843 HGNC:2711 DMPK gene DMPK Emory Genetics Laboratory;Expert Review Red Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Other Myotonic dystrophy 1, OMIM:160900 False 1 0;0;100 3.6 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DNAJB2 gene DNAJB2 Expert;Expert Review Red;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 22522442 False 1 0;0;0 3.6 False ENSG00000135924 ENSG00000135924 HGNC:5228 FBXO38 gene FBXO38 Expert Review Red;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 IID 615575 24207122 False 1 0;0;100 3.6 False ENSG00000145868 ENSG00000145868 HGNC:28844 GARS gene GARS Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Distal Spinal Muscular Atrophy False 1 0;0;0 3.6 False ENSG00000106105 ENSG00000106105 HGNC:4162 HSPB3 gene HSPB3 Expert;Expert Review Red 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 IIC 613376 20142617 False 1 0;0;0 3.6 False ENSG00000169271 ENSG00000169271 HGNC:5248 MEG3 gene MEG3 Expert Review Red Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders False 1 0;0;0 3.6 False ENSG00000214548 ENSG00000214548 HGNC:14575 PLEKHG5 gene PLEKHG5 Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Distal Spinal Muscular Atrophy;Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 17564964 False 1 0;0;0 3.6 False ENSG00000171680 ENSG00000171680 HGNC:29105 SIGMAR1 gene SIGMAR1 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Amyotrophic lateral sclerosis 16, juvenile 614373 21842496 False 1 0;0;100 3.6 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC52A1 gene SLC52A1 Expert Review Red;UKGTN Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 3.6 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC5A7 gene SLC5A7 Expert Review Red;Literature;UKGTN 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 VIIA 158580 23141292 False 1 0;0;100 3.6 False ENSG00000115665 ENSG00000115665 HGNC:14025 SNRPN gene SNRPN Emory Genetics Laboratory;Expert Review Red Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders Other - please specifiy in evaluation comments Prader-Willi syndrome, OMIM:176270 10802660;8723064;34099539 False 1 0;0;100 3.6 False Other - please provide details in the comments ENSG00000128739 ENSG00000128739 HGNC:11164 SYT2 gene SYT2 Expert;Expert Review Red Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders False 1 0;100;0 3.6 False ENSG00000143858 ENSG00000143858 HGNC:11510 UBQLN1 gene UBQLN1 Expert Review Red;Literature Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease PMID: 22766032 False 1 0;0;100 3.6 False ENSG00000135018 ENSG00000135018 HGNC:12508 DMPK_CTG str DMPK NHS GMS;Expert Review Red;Expert list Paediatric motor neuronopathies Motor and Sensory Disorders of the PNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 1 50;0;50 3.6 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50