Proteinuric renal disease
Gene: E2F3EnsemblGeneIds (GRCh38): ENSG00000112242
EnsemblGeneIds (GRCh37): ENSG00000112242
OMIM: 600427, Gene2Phenotype
E2F3 is in 2 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: 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
- PMID: 21372519
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Insufficient evidence at present, add to panel if research evidence developsCreated: 27 May 2016, 12:13 p.m.
Maggie Williams (North Bristol NHS Trust)
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
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- FSGS
- mental retardation
- OMIM
- 600427
- Clinvar variants
- Variants in E2F3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: E2F3 were changed from to FSGS; mental retardation
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: E2F3 were set to
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to E2F3.
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)E2F3 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)E2F3 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing