Severe early-onset obesity
Gene: MC4R
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MC4R were changed from Congenital Obesity; Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306; Obesity, autosomal dominant, 601665 to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Source Expert list was added to MC4R. Added phenotypes Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306 for gene: MC4R
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).
Mode of inheritance for MC4R was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
MC4R was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory
Model of inheritance for gene MC4R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MC4R was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services
MC4R was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen