GRHL2

grainyhead like transcription factor 2
OMIM: 608576
PanelMode of inheritanceDetails
4 panels
R-numbers: R262
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, posterior polymorphous, 4, OMIM:618031
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029
R-numbers: R163
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/short stature syndrome, OMIM:616029
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal dominant 28, OMIM:608641, Ectodermal dysplasia/short stature syndrome, OMIM:616029