1. Genes and Genomic Entities
  2. MC4R

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 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

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
Amber MC4R in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Obesity (BMIQ20), OMIM:618406
    • {Obesity, resistence to (BMIQ20)}, OMIM:618306
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review