Interstitial Lung Disease
Gene: ITGA3

ITGA3 (integrin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 10 panels

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

At least 8 unrelated families.
Animal model.
Created: 6 Nov 2021, 5:55 a.m. | Last Modified: 6 Nov 2021, 5:55 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM#614748 - ILNEB disorder comprising interstitial lung disease, nephrotic syndrome, junctional epidermolysis bullosa

Publications

Created: 6 Nov 2021, 5:55 a.m.
Last Modified: 6 Nov 2021, 5:55 a.m.
Panel version: 0.183

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the integrin alpha-3 gene are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. Patients exhibit a multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the commonly lethal course of the disease. More than 5 unrelated families reported, some with clinical variability in the severity and extent of multi-organ involvement.
Created: 13 Feb 2021, 12:13 a.m. | Last Modified: 13 Feb 2021, 12:13 a.m.

Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748

Publications

Created: 13 Feb 2021, 12:13 a.m.
Last Modified: 13 Feb 2021, 12:13 a.m.
Panel version: Imported from Pulmonary Fibrosis_Interstitial Lung Disease panel version 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748

OMIM

605025

Clinvar variants

Variants in ITGA3

Penetrance

None

Publications

Panels with this gene