Lipodystrophy - childhood onset
Gene: AGPAT2EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 11 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 5 Feb 2019, 2:17 p.m.
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
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lipodystrophy, congenital generalized, type 1, 608594
- OMIM
- 603100
- Clinvar variants
- Variants in AGPAT2
- Penetrance
- None
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Rare genetic inflammatory skin disorders
- Neonatal diabetes
- Fetal anomalies
- Respiratory ciliopathies including non-CF bronchiectasis
- Monogenic diabetes
- Lipodystrophy - childhood onset
- Intellectual disability
- Insulin resistance (including lipodystrophy)
- Primary ciliary disorders
- Familial diabetes
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Sarah Leigh: Comment when marking as ready:
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: agpat2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: AGPAT2 was added gene: AGPAT2 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services 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