Epidermolysis bullosaGene: ITGA3
Comment on list classification: Changed status from Red to Green based on expert reviewer suggestion (although with reservations), however recent evidence in the literature supports the association with the rare autosomal recessive multiorgan disorder comprising interstitial lung disease, nephrotic syndrome, and junctional epidermolysis bullosa
Created: 21 Apr 2017, 1:20 p.m.
junctional EB - this one has a slight concern - the first 2 cases had some blisters (minor) but the main phenotype is proteinuria and lung infiltration - the last 3 cases have not had any blistering. Still, it's in the classification so it should be green (for now).
Created: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
junctional Epidermolysis bullosa
Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for ITGA3 were set to 26719633; 27717396; 26854491; 22512483; 23114595
This gene has been classified as Green List (High Evidence).
Publications for ITGA3 were set to 23176819;26719633;27717396;26854491; 22512483;23114595
Phenotypes for ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome; Junctional Epidermolysis bullosa
Phenotypes for ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital; Junctional Epidermolysis bullosa
Mode of inheritance for ITGA3 was changed to BIALLELIC, autosomal or pseudoautosomal
ITGA3 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
ITGA3 was created by ellenmcdonagh
ITGA3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing