SRY

sex determining region Y
OMIM: 480000, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SRY in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

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

Green SRY in Mendeliome


Version 1.2374

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

Green SRY in Fetal anomalies


Version 1.314

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