1. Panels
  2. Congenital Diarrhoea
  3. DGAT1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital Diarrhoea

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, mouse model supports gene-disease association.
Created: 4 Jan 2021, 3:27 a.m. | Last Modified: 4 Jan 2021, 3:27 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhoea 7, protein-losing enteropathy type, MIM# 615863

Publications

Created: 4 Jan 2021, 3:27 a.m.
Last Modified: 4 Jan 2021, 3:27 a.m.
Panel version: 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Tags
treatable
OMIM
604900
Clinvar variants
Variants in DGAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: DGAT1.

4 Jan 2021, 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).

4 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863

4 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DGAT1 were set to

4 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DGAT1 was added gene: DGAT1 was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DGAT1 was set to Unknown