Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: ITGAV

I don't know

Comment on list classification: Two unrelated cases were reported with inflammatory bowel disease, immune dysregulation and recurrent infections. Hence, this gene can be rated amber with current evidence.

Created: 3 Feb 2025, 9:15 p.m. | Last Modified: 3 Feb 2025, 9:15 p.m.

Panel Version: 7.24

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, 9:13 p.m. | Last Modified: 3 Feb 2025, 9:13 p.m.

Panel Version: 7.23

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

• 39526957