GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ZMPSTE24

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

restrictive dermopathy (RD) can include growth retardation, contractures, micrognathia, dysplastic clavicles. green - multiple cases for RD; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Mandibuloacral dysplasia with type B lipodystrophy 608612
Restrictive dermopathy, lethal 275210

OMIM

606480

Clinvar variants

Variants in ZMPSTE24

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ZMPSTE24 was added gene: ZMPSTE24 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ZMPSTE24