Arthrogryposis
Gene: ZMPSTE24

ZMPSTE24 (zinc metallopeptidase STE24)
EnsemblGeneIds (GRCh38): ENSG00000084073
EnsemblGeneIds (GRCh37): ENSG00000084073
OMIM: 606480, Gene2Phenotype
ZMPSTE24 is in 13 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: Lots of reported cases
Created: 22 Dec 2016, 1:52 p.m.

recognised on G2P
Created: 22 Dec 2016, 1:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Restrictive dermopathy, lethal 275210

Publications

15843403

Created: 22 Dec 2016, 1:52 p.m.

Panel version: 1.77

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Restrictive dermopathy, lethal 275210

OMIM

606480

Clinvar variants

Variants in ZMPSTE24

Penetrance

Complete

Publications

15843403

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4