Intestinal failure or congenital diarrhoeaGene: DGAT1
This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Haas et al 2012 identified 2 siblings (Ashkenazi Jewish descent) with congenital diarrheal disorder. They used exome sequencing to identify homozygous loss-of-function DGAT1 mutations.
Stephen et al 2016 used homozygosity mapping and exome sequencing in 3 affected children from 2 families with severe diarrhea, hypoalbuminemia and protein-losing enteropathy. They found homozygous DGAT1 mutations in both families.
Gluchowski et al 2017 used exome sequencing on 2 identical Asian male twins with watery diarrhea shortly after birth, protein-losing enteropathy and failure to thrive. They found a homozygous recessive mutation in DGAT1, c.314T>C, p.L105P. Functional studies showed the enzyme produced from the mutant allele is less abundant, resulting in partial loss of TG synthesis activity and decreased formation of lipid droplets in patient-derived primary dermal fibroblasts. Thus, in contrast with complete loss-of-function alleles of DGAT1, the p.L105P missense allele partially reduces TG synthesis activity and causes a less severe clinical phenotype
Ratchford 2018 identified compound heterozygous mutations in Caucasian girl with severe congenital diarrhea.
Created: 22 Jan 2019, 1:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital diarrheal disorder
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 24 Jan 2019, 4:34 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: DGAT1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 10:52 a.m.
Phenotypes for gene: DGAT1 were changed from Congenital diarrheal disorder to Congenital diarrheal disorder; ?Diarrhea 7, protein-losing enteropathy type, OMIM:615863
Mode of inheritance for gene: DGAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: dgat1 has been classified as Green List (High Evidence).
Phenotypes for gene: DGAT1 were changed from to Congenital diarrheal disorder
Publications for gene: DGAT1 were set to
Source Expert Review Green was added to DGAT1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DGAT1 was added gene: DGAT1 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: DGAT1 was set to