SRY

sex determining region Y
OMIM: 480000, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SRY in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SRY in Mendeliome


Version 1.1891

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

Red SRY in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Gonadoblastoma

Green SRY in Fetal anomalies


Version 1.255

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