Severe early-onset obesity
Gene: PPARG
Comment on list classification: see expert commentCreated: 7 Jul 2016, 7:25 a.m.
LOF mutations cause partial lipodystrophy. The evidence suggesting that some gain of function variants cause obesity is weakCreated: 8 Nov 2015, 5:59 p.m.
LOF mutations in this gene cause a totally different disease, partial lipodystrophy. The suggestion that n terminal mutations may be associated with obesity is based on weak evidence in a single paperCreated: 8 Nov 2015, 5:43 p.m.
Mode of inheritance
Unknown
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Source Expert list was added to PPARG.
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PPARG was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services
PPARG was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen