Proteinuric renal disease
Gene: ITGB4EnsemblGeneIds (GRCh38): ENSG00000132470
EnsemblGeneIds (GRCh37): ENSG00000132470
OMIM: 147557, Gene2Phenotype
ITGB4 is in 8 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: ITGB4; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 11328943; Other comments: Unaware of phenotype association with this geneCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, with pyloric stenosis #226730
Publications
- PMID: 11328943
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: One report in a syndromic case.Created: 27 May 2016, 12:19 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, 3 VUS cases over 300 tested. Inheritance suggests AR. Listed in several reviewsCreated: 19 Oct 2015, 2:38 p.m.
Phenotypes
epidermolysis bullosa and pyloric atresia + FSGS
Mode of pathogenicity
Other
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
-
- Epidermolysis bullosa, junctional, with pyloric stenosis #226730
- OMIM
- 147557
- Clinvar variants
- Variants in ITGB4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis #226730
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ITGB4 were set to
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ITGB4.
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)ITGB4 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)ITGB4 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing