Proteinuric renal disease
Gene: ITGA3EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 8 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes a severe recessive early onset nephrotic syndrome (with other features)Created: 27 May 2016, 12:17 p.m.
Maggie Williams (North Bristol NHS Trust)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748
- OMIM
- 605025
- Clinvar variants
- Variants in ITGA3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ITGA3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for ITGA3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ITGA3 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)ITGA3 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing