SRY

sex determining region Y
OMIM: 480000
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
46XY SEX REVERSAL 1 400044
R-numbers: R146
Signed-off version 2.2
Other - please specifiy in evaluation comments
Phenotypes
Testicular dysgenesis/Swyers syndrome, 46XX sex reversal 1 400045, 46XY sex reversal 1 400044
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
46XY SEX REVERSAL 1