Clefting
Gene: ZMPSTE24
ZMPSTE24 (zinc metallopeptidase STE24)
EnsemblGeneIds (GRCh38): ENSG00000084073
EnsemblGeneIds (GRCh37): ENSG00000084073
OMIM: 606480, Gene2Phenotype
ZMPSTE24 is in 13 panels
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)
Cleft is described in the OMIM clinical synopsis, but I cannot find further evidence in pubmedCreated: 31 May 2017, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RESTRICTIVE DERMOPATHY, LETHAL
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
-
- Arthrogryposis
- Clefting
- Skeletal dysplasia
- Monogenic diabetes
- Proteinuric renal disease
- Fetal anomalies
- Unexplained kidney failure in young people
- Familial diabetes
- Intellectual disability
- Osteogenesis imperfecta
- Insulin resistance (including lipodystrophy)
- DDG2P
- Severe insulin resistance and lipodystrophy syndromes
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
Ellen McDonagh (Genomics England Curator)ZMPSTE24 was created by ellenmcdonagh