1. Panels
  2. Prepair 1000+
  3. DGAT1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: DGAT1

Green List (high evidence)
DGAT1 (diacylglycerol O-acyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000185000
EnsemblGeneIds (GRCh37): ENSG00000185000
OMIM: 604900, Gene2Phenotype
DGAT1 is in 6 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Diarrhea-7 (DIAR7) is a protein-losing enteropathy characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas. Patients experience failure to thrive, hypogammaglobulinemia with recurrent infections, and require albumin infusions and parenteral nutrition. Hypertriglyceridemia and digital clubbing have been observed (Stephen et al., 2016). The malabsorption can result in severe deficiency of vitamin D and other nutrients (Gupta et al., 2020).

HGNC approved symbol/name: DGAT1
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in > 3 independent families
Created: 22 Aug 2024, 12:34 a.m. | Last Modified: 22 Aug 2024, 12:34 a.m.
Panel Version: 1.187

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; congenital diarrhea 7 with exudative enteropathy MONDO:0014375

Publications

Created: 22 Aug 2024, 12:34 a.m.
Last Modified: 22 Aug 2024, 12:34 a.m.
Panel version: 1.187

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
  • congenital diarrhoea 7 with exudative enteropathy MONDO:0014375
OMIM
604900
Clinvar variants
Variants in DGAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dgat1 has been classified as Green List (High Evidence).

22 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DGAT1 were changed from ?Diarrhea 7, protein-losing enteropathy type to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; congenital diarrhoea 7 with exudative enteropathy MONDO:0014375

22 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DGAT1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes ?Diarrhea 7, protein-losing enteropathy type for gene: DGAT1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DGAT1 was added gene: DGAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type