MC4R

melanocortin 4 receptor
OMIM: 155541, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MC4R in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Obesity, resistence to (BMIQ20)} 618306
  • Obesity (BMIQ20) 618406 AD, AR

Green MC4R in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.10

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity (BMIQ20) MIM#618406