Insulin resistance (including lipodystrophy)
Gene: AGPAT2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Generalised Lipodystrophy
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 11 Aug 2016, 9:23 a.m.
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594
Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
AGPAT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
Model of inheritance for gene AGPAT2 was changed to BIALLELIC, autosomal or pseudoautosomal
AGPAT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
AGPAT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen