Clefting
Gene: ZMPSTE24

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

1 review

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

I don't know

Cleft is described in the OMIM clinical synopsis, but I cannot find further evidence in pubmed
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RESTRICTIVE DERMOPATHY, LETHAL

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

RESTRICTIVE DERMOPATHY, LETHAL

OMIM

606480

Clinvar variants

Variants in ZMPSTE24

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ZMPSTE24 was added to Cleftingpanel. Sources: Expert Review Amber

31 May 2017, Gel status: 0

Created