Proteinuric renal disease
Gene: ITGA3
Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that this gene should be rated green on this panel.Created: 26 Mar 2019, 2 p.m.
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: ITGA3; Suggested initial gene rating: amber; Evidence for inclusion: none provided; Other comments: Associated with early onset nephrotic syndrome, in combination with other syndromic features; epidermolysis bullosa and interstitial lung disease. No positive cases in >600 referrals for SRNS panel testingCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Causes a severe recessive early onset nephrotic syndrome (with other features)Created: 27 May 2016, 12:17 p.m.
Currently on UK diagnostic panel, but no positive cases over 300 tested
Listed in several reviewsCreated: 19 Oct 2015, 2:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital interstitial lung disease, nephrotic syndrome, and mild epidermolysis bullosa
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748
Source NHS GMS was added to ITGA3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ITGA3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ITGA3 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
ITGA3 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing