Familial diabetes
Gene: AGPAT2
AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 11 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene add to the panel as green, due to expert review.Created: 15 Jun 2016, 3:28 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 603100
- Clinvar variants
- Variants in AGPAT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Fetal anomalies
- Primary ciliary disorders
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
11 Feb 2021, Gel status: 3
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: AGPAT2
27 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Oct 2015, Gel status: 0
Added New Source
Sian Ellard (University of Exeter Medical School)AGPAT2 was added to Familial diabetespanel. Sources: Expert Review