POMC

proopiomelanocortin
OMIM: 176830, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green POMC in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 2.43
Latest signed off version: v2.2 (18 Feb 2020)

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 3: Adrenal disorders
Level 2: Endocrine disorders
Version 2.6
Latest signed off version: v2.2 (19 Feb 2020)

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