Monogenic Diabetes
Gene: ZMPSTE24

ZMPSTE24 (zinc metallopeptidase STE24)
EnsemblGeneIds (GRCh38): ENSG00000084073
EnsemblGeneIds (GRCh37): ENSG00000084073
OMIM: 606480, Gene2Phenotype
ZMPSTE24 is in 12 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene disease association with Mandibuloacral dysplasia with type B lipodystrophy. Lipodystrophy associated with clinical features of insulin resistance, impaired glucose tolerance, and diabetes mellitus.
Created: 21 May 2024, 1:13 a.m. | Last Modified: 21 May 2024, 1:13 a.m.

Panel Version: 0.121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, MONDO:0012074

Publications

Created: 21 May 2024, 1:13 a.m.
Last Modified: 21 May 2024, 1:13 a.m.
Panel version: 0.121

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

History Filter Activity

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 12913070; 15317753; 20034068; 16297189; 18435794 Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612

Monogenic Diabetes Gene: ZMPSTE24