Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: GALE

GALE (UDP-galactose-4-epimerase)
EnsemblGeneIds (GRCh38): ENSG00000117308
EnsemblGeneIds (GRCh37): ENSG00000117308
OMIM: 606953, Gene2Phenotype
GALE is in 10 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

At least 13 patients (non-overlapping reports) with biallelic GALE variants causing syndromic thrombocytopenia (THC13) with a newly-documented humoral immunodeficiency component (2026 cohort, 7 comprehensively immunophenotyped children). AR, founder variant in one subpopulation.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

OMIM

606953

Clinvar variants

Variants in GALE

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GALE was added gene: GALE was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: GALE