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Gene: ITGA3

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: UPGRADE TO GREEN
Created: 6 Feb 2025, 1:21 a.m. | Last Modified: 6 Feb 2025, 1:21 a.m.
Panel Version: 1.1459
Created: 6 Feb 2025, 1:21 a.m.
Last Modified: 6 Feb 2025, 1:21 a.m.
Panel version: 1.1459

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Junctional epidermolysis bullosa-7 with interstitial lung disease and nephrotic syndrome (JEB7), also known as ILNEB, is an autosomal recessive 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 lethal course of the disease.
Marked as Red in Mackenzie's due to only 4 reported cases, however, ZS reviewed the gene in MM in 2021 as a Green gene, as there were more than 5 unrelated families reported (confirmed in this review, ~10 unrelated families reported).
Most cases are homozygous, two compound het sibs reported (age 13 and 9) with milder phenotype, p.(R274Q) suggested to be a hypomorphic mutation (PMID: 27717396). A small number of other patients have survived into adolescence.
Recommend change to Green.
Created: 5 Feb 2025, 5:56 a.m. | Last Modified: 5 Feb 2025, 5:56 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MIM #614748

Publications

Created: 5 Feb 2025, 5:56 a.m.
Last Modified: 5 Feb 2025, 5:56 a.m.
Panel version: 1.1456

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Tags
for review
OMIM
605025
Clinvar variants
Variants in ITGA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: ITGA3.

6 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: itga3 has been classified as Red List (Low Evidence).

6 Feb 2025, Gel status: 1

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ITGA3 were set to 22512483; 25810266; 23114595; 27717396; 32198874; 26854491; 34492382; 34751145

6 Feb 2025, Gel status: 1

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266 Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748