Lipodystrophy - childhood onset

Gene: ZMPSTE24

Green List (high evidence)

ZMPSTE24 (zinc metallopeptidase STE24)
EnsemblGeneIds (GRCh38): ENSG00000084073
EnsemblGeneIds (GRCh37): ENSG00000084073
OMIM: 606480, Gene2Phenotype
ZMPSTE24 is in 15 panels

4 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:23 p.m.

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

4 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: zmpste24 has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMPSTE24 were set to 18435794; 16297189; 20034068; 12913070; 15317753 Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612