ZMPSTE24

zinc metallopeptidase STE24
OMIM: 606480
PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Restrictive dermopathy, lethal 275210
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612, LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
R-numbers: R158
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, 608612
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, 608612
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy 608612, Restrictive dermopathy, lethal 275210