Genomics England
GMS Panels
Panels
Genes and Entities

ZMPSTE24

zinc metallopeptidase STE24
OMIM: 606480
PanelMode of inheritanceDetails
6 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Restrictive dermopathy, lethal 275210
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612, LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
Green
in Lipodystrophy - childhood onset
R-numbers: R158
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, 608612
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, 608612
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy 608612, Restrictive dermopathy, lethal 275210