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

Amber TSPYL1 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.45
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
Tags
  • for-review

Amber TSPYL1 in Paediatric disorders - additional genes


Version 1.84
Latest signed off version: v1.1 (11 Feb 2020)

Component of the following Super Panels:

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