Insulin resistance (including lipodystrophy)
Gene: AGPAT2EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 11 panels
3 reviews
David Savage (IMS MRL, Uni. Cambridge)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Robert Semple (University of Cambridge)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Generalised Lipodystrophy
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 11 Aug 2016, 9:23 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lipodystrophy, congenital generalized, type 1, 608594
- OMIM
- 603100
- Clinvar variants
- Variants in AGPAT2
- Penetrance
- Complete
- Panels with this gene
-
- Primary ciliary disorders
- Familial diabetes
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Rare genetic inflammatory skin disorders
- Neonatal diabetes
- Respiratory ciliopathies including non-CF bronchiectasis
- Monogenic diabetes
- Intellectual disability
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)AGPAT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)AGPAT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)AGPAT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen