TSPYL1:Ensemblv115

TSPY like 1
OMIM: 604714, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TSPYL1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome (MIM#608800)
Tags
  • disputed

Green TSPYL1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
  • Literature
  • Expert Review Green
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome - 608800
  • sudden infant death-dysgenesis of the testes syndrome MONDO:0012124

Red TSPYL1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Red
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)

Green TSPYL1 in Prepair 1000+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)