Familial pulmonary fibrosis
Gene: ITGA3EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 8 panels
1 review
Alice Gardham (Genomics England)
A cause of congenital interstitial lung diseaseCreated: 9 Feb 2017, 12:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748
- 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. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)ITGA3 was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Created
Alice Gardham (Genomics England)ITGA3 was created by agardham