Lipodystrophy_Lipoatrophy
Gene: ZMPSTE24

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severity of disease correlates with residual enzyme activity. Mandibuloacral dysplasia is the milder phenotype and is characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acroosteolysis, cutaneous atrophy, and lipodystrophy. Results from one hylomorphic allele in trans with a second hylomorphic or null allele. 10 families reported.

Bi-allelic null alleles are associated with a more severe phenotype, restrictive dermopathy.
Created: 7 Apr 2021, 8:55 p.m. | Last Modified: 7 Apr 2021, 8:55 p.m.

Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074

Publications

Created: 7 Apr 2021, 8:55 p.m.
Last Modified: 7 Apr 2021, 8:55 p.m.
Panel version: 0.25

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612
MONDO:0012074

OMIM

606480

Clinvar variants

Variants in ZMPSTE24

Penetrance

None

Publications

Panels with this gene