SRY

sex determining region Y
OMIM: 480000, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SRY in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • 46XX sex reversal 1, MIM# 400045
  • 46XY sex reversal 1 , MIM#400044

Green SRY in Fetal anomalies


Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • 46XY sex reversal 1, OMIM #400044
  • 46XX sex reversal 1, OMIM #400045