Lipodystrophy - childhood onset

Gene: AGPAT2

Green List (high evidence)

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2)
EnsemblGeneIds (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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Robert Semple (University of Cambridge)

Green List (high evidence)

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 reported
Created: 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

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

4 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: agpat2 has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 4

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