Familial 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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mandibuloacral dysplasia with type B lipodystrophy, 608612
- OMIM
- 606480
- Clinvar variants
- Variants in ZMPSTE24
- Penetrance
- None
- Publications
- Panels with this gene
-
- Severe insulin resistance and lipodystrophy syndromes
- Skeletal dysplasia
- Proteinuric renal disease
- Unexplained kidney failure in young people
- Osteogenesis imperfecta
- Familial diabetes
- Intellectual disability
- DDG2P
- Insulin resistance (including lipodystrophy)
- Clefting
- Fetal anomalies
- Monogenic diabetes
- Arthrogryposis
History Filter Activity
1 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Familial 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 20034068; 15317753; 16297189; 12913070; 18435794 Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612