Monogenic diabetes
Gene: AGPAT2EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:45 a.m.
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 Removed
- Phenotypes
-
- Lipodystrophy, congenital generalized, type 1, 608594
- lipodystrophy
- Tags
- OMIM
- 603100
- Clinvar variants
- Variants in AGPAT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Monogenic diabetes
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Fetal anomalies
- Primary ciliary disorders
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: AGPAT2.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to AGPAT2. Rating Changed from Green List (high evidence) to No List (delete)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene AGPAT2 were changed from 11967537; 12765973 to PubMed PMID: 11967537, PubMed PMID: 12765973.
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes lipodystrophy for gene: AGPAT2 Publications for gene AGPAT2 were changed from to 11967537; 12765973
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: AGPAT2 was added gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594