Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: AGPAT2EnsemblGeneIds (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: Promoted to green due to expert review (University of Exeter Medical School).Created: 23 Aug 2016, 11:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
lipodystrophy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- lipodystrophy
- OMIM
- 603100
- Clinvar variants
- Variants in AGPAT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Respiratory ciliopathies including non-CF bronchiectasis
- Monogenic diabetes
- Intellectual disability
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Primary ciliary disorders
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Rare genetic inflammatory skin disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)AGPAT2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)AGPAT2 was created by ellenmcdonagh