1. Genes and Genomic Entities
  2. TSPYL1

TSPYL1

TSPY like 1
OMIM: 604714, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TSPYL1 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome OMIM:608800
  • sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Tags
  • founder-effect
Green TSPYL1 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome OMIM:608800
  • sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Green TSPYL1 in Paediatric disorders - additional genes


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Sudden infant death with dysgenesis of the testes syndrome OMIM:608800
    • sudden infant death-dysgenesis of the testes syndrome MONDO:0012124