Eleanor Williams Added comment: Comment on list classification: Promoting to green as there are now 3 independent cases of patients with plausible disease cause variants in this gene with SIDDT
Eleanor Williams Phenotypes for gene: TSPYL1 were changed from Sudden infant death with dysgenesis of the testes syndrome,608800; SIDDT to Sudden infant death with dysgenesis of the testes syndrome OMIM:608800; sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Eleanor Williams reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885560, 33075815, 15273283, 25449952, 16418600, 19463995, 22137496; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome OMIM:608800, sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal