Proteinuric renal disease
Gene: ITGB4
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: One report in a syndromic case.Created: 27 May 2016, 12:19 p.m.
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
Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis #226730
Publications for gene: ITGB4 were set to
Source NHS GMS was added to ITGB4.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ITGB4 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
ITGB4 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing