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 GLRA1 gene GLRA1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Sudden death in young people Cardiac arrhythmia Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 False 3 0;0;0 1.15 False ENSG00000145888 ENSG00000145888 HGNC:4326 PHOX2B gene PHOX2B Emory Genetics Laboratory;Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen Sudden death in young people Cardiac arrhythmia Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown sudden infant death syndrome; unclassified sudden infant death; USID;Congenital Central Hypoventilation Syndrome; CCHS;Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 False 3 0;0;0 1.15 False Other - please provide details in the comments ENSG00000109132 ENSG00000109132 HGNC:9143 PPA2 gene PPA2 Expert Review;Expert Review Green;Literature Sudden death in young people Cardiac arrhythmia Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Unexpected cardiac arrest in infancy 27523598 False 3 100;0;0 1.15 False ENSG00000138777 ENSG00000138777 HGNC:28883 TSPYL1 gene TSPYL1 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Sudden death in young people Cardiac arrhythmia Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome OMIM:608800;sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 32885560;33075815;15273283;25449952;16418600;19463995;22137496 False 3 100;0;0 1.15 False ENSG00000189241 ENSG00000189241 HGNC:12382