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  2. Monogenic Diabetes
  3. AGPAT2
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Monogenic Diabetes

Gene: AGPAT2

Green List (high evidence)
AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 5 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

well established gene for recessive Berardinelli-siep syndrome type 1
diabetes mellitus common complication for lipodystrophy
Created: 30 Apr 2024, 12:59 a.m. | Last Modified: 30 Apr 2024, 12:59 a.m.
Panel Version: 0.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
diabetes mellitus MONDO:0005015; congenital generalized lipodystrophy type 1 MONDO:0012071

Publications

Created: 30 Apr 2024, 12:59 a.m.
Last Modified: 30 Apr 2024, 12:59 a.m.
Panel version: 0.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • congenital generalized lipodystrophy type 1 MONDO:0012071
OMIM
603100
Clinvar variants
Variants in AGPAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agpat2 has been classified as Green List (High Evidence).

4 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to congenital generalized lipodystrophy type 1 MONDO:0012071

4 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGPAT2 was added gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973. Phenotypes for gene: AGPAT2 were set to neonatal diabetes mellitus