Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ITGAL

ITGAL (integrin subunit alpha L)
EnsemblGeneIds (GRCh38): ENSG00000005844
EnsemblGeneIds (GRCh37): ENSG00000005844
OMIM: 153370, Gene2Phenotype
ITGAL is in 2 panels

1 review

Boaz Palterer (University of Florence)

Green List (high evidence)

Yatim et al. described 6 subjects from 4 kindreds with biallelic variants in ITGAL presenting with EV, accounting for 10% of unexplained EV cohort. The EV cohort was therefore highly enriched in individuals homozygous for predicted deleterious ITGAL variants (10%, 4 of 40), compared with patients with other infectious diseases (0 of 25,329) and with the general population (0 of 807,162). Follows extensive ex-vivo and in vitro functional validation.
Sources: Literature
Created: 24 Jun 2026, 1:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
epidermodysplasia verruciformis

Publications

41758928

Created: 24 Jun 2026, 1:38 p.m.

Panel version: 9.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

epidermodysplasia verruciformis

OMIM

153370

Clinvar variants

Variants in ITGAL

Penetrance

unknown

Publications

41758928

Panels with this gene

History Filter Activity

24 Jun 2026, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: ITGAL was added gene: ITGAL was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: ITGAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGAL were set to 41758928 Phenotypes for gene: ITGAL were set to epidermodysplasia verruciformis Penetrance for gene: ITGAL were set to unknown Review for gene: ITGAL was set to GREEN

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: ITGAL