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  2. Disorders of immune dysregulation
  3. ITGAV
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Disorders of immune dysregulation

Gene: ITGAV

Amber List (moderate evidence)
ITGAV (integrin subunit alpha V)
EnsemblGeneIds (GRCh38): ENSG00000138448
EnsemblGeneIds (GRCh37): ENSG00000138448
OMIM: 193210, Gene2Phenotype
ITGAV is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation.
Sources: Literature
Created: 4 Feb 2025, 1:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic disease, MONDO:0002254, ITGAV-related

Publications

Created: 4 Feb 2025, 1:56 a.m.

Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, ITGAV-related
OMIM
193210
Clinvar variants
Variants in ITGAV
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgav has been classified as Amber List (Moderate Evidence).

4 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgav has been classified as Amber List (Moderate Evidence).

4 Feb 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGAV was added gene: ITGAV was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGAV were set to 39526957 Phenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related Review for gene: ITGAV was set to AMBER