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 1.16

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 Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

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


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

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