POMC

proopiomelanocortin
OMIM: 176830, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green POMC in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734

Green POMC in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)

Red POMC in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Proopiomelanocortin deficiency

Green POMC in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • {Obesity, early-onset, susceptibility to}, OMIM:601665
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734

Green POMC in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)

Green POMC in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734