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Fetal anomalies

Gene: ZMPSTE24

Green List (high evidence)
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.

Hutchinson-Guildford progeria syndrome, atypical: limited evidence of association, 2 cases reported. Intermediate between the two more common phenotypes. One of the cases had LMNA nonsense variant as well.

Restrictive dermatopathy, lethal: results from bi-allelic null alleles, tautness of the skin causes fetal akinesia or hypokinesia deformation sequence. 44 families reported, p.Leu362Phefs*18 identified in ~60%, founder effect in Mennonite and Hutterite populations.
Created: 7 Apr 2021, 8:51 p.m. | Last Modified: 7 Apr 2021, 8:51 p.m.
Panel Version: 0.256

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143

Publications

Created: 7 Apr 2021, 8:51 p.m.
Last Modified: 7 Apr 2021, 8:51 p.m.
Panel version: Imported from Arthrogryposis panel version 0.259

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612
  • MONDO:0012074
  • Restrictive dermopathy, lethal, MIM# 275210
  • MONDO:0010143
OMIM
606480
Clinvar variants
Variants in ZMPSTE24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zmpste24 has been classified as Green List (High Evidence).

10 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZMPSTE24 were changed from MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143

10 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZMPSTE24 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED