1. Genes and Genomic Entities
  2. POMC

POMC

proopiomelanocortin
OMIM: 176830, Gene2Phenotype

2 panels

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


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Obesity, early-onset, susceptibility to}, OMIM:601665
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Red POMC in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 4.11
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734
  • {Obesity, early-onset, susceptibility to}, 601665