Epidermolysis bullosa
Gene: ITGA3EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 bullosaCreated: 21 Apr 2017, 1:20 p.m.
John McGrath (King's College London)
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
Phenotypes
junctional Epidermolysis bullosa
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
- Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
- Junctional Epidermolysis bullosa
- OMIM
- 605025
- Clinvar variants
- Variants in ITGA3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set publications
Louise Daugherty (Genomics England Curator)Publications for ITGA3 were set to 26719633; 27717396; 26854491; 22512483; 23114595
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for ITGA3 were set to 23176819;26719633;27717396;26854491; 22512483;23114595
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome; Junctional Epidermolysis bullosa
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital; Junctional Epidermolysis bullosa
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for ITGA3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ITGA3 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ITGA3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ITGA3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing