Proteinuric renal disease
Gene: ZMPSTE24EnsemblGeneIds (GRCh38): ENSG00000084073
EnsemblGeneIds (GRCh37): ENSG00000084073
OMIM: 606480, Gene2Phenotype
ZMPSTE24 is in 13 panels
3 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: ZMPSTE24; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 17152860 ; Other comments: Unclear of association between gene and nephrotic syndromeCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy #608612
Publications
- PMID: 17152860
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: No evidence in renal disease.Created: 27 May 2016, 1:01 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, but no positive cases over 300 tested
Listed in one reviewCreated: 19 Oct 2015, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Mandibuloacral dysplasia with type B lipodystrophy #608612
- OMIM
- 606480
- Clinvar variants
- Variants in ZMPSTE24
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy #608612
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ZMPSTE24 were set to
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ZMPSTE24.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ZMPSTE24 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)ZMPSTE24 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing