Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DGAT1

DGAT1 (diacylglycerol O-acyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000185000
EnsemblGeneIds (GRCh37): ENSG00000185000
OMIM: 604900, Gene2Phenotype
DGAT1 is in 3 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

At least 30 patients (6 independent cohorts) with biallelic DGAT1 loss-of-function, protein-losing enteropathy type diarrhea 7 with hypogammaglobulinemia requiring albumin/immunoglobulin support. AR, genotype-phenotype correlation (null alleles = severe neonatal; hypomorphic = later onset).
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

604900

Clinvar variants

Variants in DGAT1

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: DGAT1 was added gene: DGAT1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: DGAT1