Severe early-onset obesity
Gene: LEP
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962; Congenital Obesity to Obesity, morbid, due to leptin deficiency, OMIM:614962
Source Expert list was added to LEP. Added phenotypes Obesity, morbid, due to leptin deficiency, 614962 for gene: LEP
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 Green List (High Evidence).
LEP was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory
Model of inheritance for gene LEP was set to BIALLELIC, autosomal or pseudoautosomal
LEP was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services
LEP was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen