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  3. ZMPSTE24
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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 13 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.
Created: 5 Feb 2019, 2:23 p.m.

Panel version: 1.0

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

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

Panel version: Imported from Insulin resistance (including lipodystrophy) 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

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

Panel version: Imported from Insulin resistance (including lipodystrophy) 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: Imported from Insulin resistance (including lipodystrophy) 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
None
Publications
Panels with this gene

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