MC4R

melanocortin 4 receptor
OMIM: 155541, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green MC4R in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity (BMIQ20), OMIM:618406
  • {Obesity, resistence to (BMIQ20)}, OMIM:618306
Red MC4R in Groopman et al 2019 - Genes with diagnostic variants


Version 0.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Obesity autosomal dominant
  • Nephropathy of unknown origin
  • MIM 601665