Mackenzie's Mission_Reproductive Carrier Screening
Gene: ITGA3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This is a neonatal multi-organ 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.
Sources: Expert Review
Created: 13 Feb 2021, 12:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 13 Feb 2021, 12:21 a.m.

Panel version: 0.54

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review

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

History Filter Activity

13 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGA3 was added gene: ITGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491 Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Review for gene: ITGA3 was set to GREEN

Mackenzie's Mission_Reproductive Carrier Screening Gene: ITGA3