Insulin resistance (including lipodystrophy)

Gene: ZMPSTE24

Green List (high evidence)

ZMPSTE24 (zinc metallopeptidase STE24)
EnsemblGeneIds (GRCh38): ENSG00000084073
EnsemblGeneIds (GRCh37): ENSG00000084073
OMIM: 606480, Gene2Phenotype
ZMPSTE24 is in 14 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia with lipodystrophy

Publications

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.

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

12 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ZMPSTE24 were set to 12913070; 15317753; 16297189; 20034068; 18435794

12 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ZMPSTE24 were set to 12913070

11 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ZMPSTE24 was changed to BIALLELIC, autosomal or pseudoautosomal

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZMPSTE24 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen