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Intellectual disability

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

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As there are two unrelated cases reported with global developmental delay, this gene can be rated amber with current evidence.
Created: 3 Feb 2025, 8:53 p.m. | Last Modified: 3 Feb 2025, 8:53 p.m.
Panel Version: 8.63
Comment on publications: PMID:39526957 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 3 Feb 2025, 8:52 p.m. | Last Modified: 3 Feb 2025, 8:52 p.m.
Panel Version: 8.62
PMID:39526957 reported the identification of biallelic ITGAV variants in two unrelated patients and four foetuses from a third family. The two patients were reported with complex phenotype including global developmental delay, eye and brain abnormalities, inflammatory bowel disease and immune dysregulation. The four foetuses were reported with brain and skull abnormalities. There is also functional evidence in support of the association.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 3 Feb 2025, 8:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
syndromic disease, MONDO:0002254

Publications

Created: 3 Feb 2025, 8:49 p.m.

Panel version: 8.61

Details

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

History Filter Activity

3 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

3 Feb 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ITGAV were set to 39526957

3 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ITGAV was added gene: ITGAV was added to Intellectual disability. 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 Review for gene: ITGAV was set to AMBER