Lipodystrophy - childhood onset
Gene: PPARGAs 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, 2:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Partial Lipodystrophy Type 3
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. At least six variants reportedCreated: 11 Aug 2016, 10:07 a.m.
Comment on phenotypes: Variants also reported in Carotid intimal medial thickness 1 609338, Obesity, severe 601665 and Diabetes, type 2 125853Created: 11 Aug 2016, 10:06 a.m.
Sarah Leigh: Comment on phenotypes: Variant
Gene: pparg has been classified as Green List (High Evidence).
gene: PPARG was added gene: PPARG 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: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367