Monogenic diabetes
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
- OMIM
- 606480
- Clinvar variants
- Variants in ZMPSTE24
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting
- Proteinuric renal disease
- Monogenic diabetes
- Skeletal dysplasia
- Intellectual disability
- Unexplained kidney failure in young people
- Familial diabetes
- DDG2P
- Osteogenesis imperfecta
- Insulin resistance (including lipodystrophy)
- Fetal anomalies
- Severe insulin resistance and lipodystrophy syndromes
- Arthrogryposis
History Filter Activity
16 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
30 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Initial gene list and info col
18 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Monogenic diabetes. Sources: 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