Proteinuric renal disease
Gene: E2F3
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: E2F3; Suggested initial gene rating: red; Evidence for inclusion: PMID: 21372519; Other comments: Only one patient in a single publication. Whole gene deletion associated with FSGS and mental retardation. No positive cases in >600 patients referred for SRNS testingCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FSGS + mental retardation (No OMIM ref)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Insufficient evidence at present, add to panel if research evidence developsCreated: 27 May 2016, 12:13 p.m.
One publication - gene deletion. FSGS+dev delay. Currently on UK diagnostic panel, but no positive cases over 300 tested.Created: 19 Oct 2015, 2:28 p.m.
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: E2F3 were changed from to FSGS; mental retardation
Publications for gene: E2F3 were set to
Source NHS GMS was added to E2F3.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
E2F3 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
E2F3 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing