Proteinuric renal disease
Gene: ZMPSTE24
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: No evidence in renal disease.Created: 27 May 2016, 1:01 p.m.
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
Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy #608612
Publications for gene: ZMPSTE24 were set to
Source NHS GMS was added to ZMPSTE24.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ZMPSTE24 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
ZMPSTE24 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing