Insulin resistance (including lipodystrophy)
Gene: ZMPSTE24

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

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia with lipodystrophy

Publications

PMID: 12913070

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Variants also reported in Restrictive dermopathy, lethal, 275210
Created: 12 Aug 2016, 4:18 p.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported. Phenotype does not fit with all the inclusion criteria (no Acanthosis nigricans, or mention of obesity status)
Created: 11 Aug 2016, 12:15 p.m.

Created: 11 Aug 2016, 12:15 p.m.

Panel version: 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Mandibuloacral dysplasia with type B lipodystrophy, 608612

OMIM

606480

Clinvar variants

Variants in ZMPSTE24

Penetrance

Complete

Publications

Panels with this gene