Congenital adrenal hypoplasia
Gene: POMC

POMC (proopiomelanocortin)
EnsemblGeneIds (GRCh38): ENSG00000115138
EnsemblGeneIds (GRCh37): ENSG00000115138
OMIM: 176830, Gene2Phenotype
POMC is in 2 panels

1 review

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Usually causes secondary adrenal hypoplasia (central, with low ACTH) but can have high ACTH in serum if a specific point mutation causes bioinactive ACTH. Therefore, can be misdiagnosed as primary adrenal hypoplasia, but only one report to date.
Created: 4 Feb 2016, 4:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2016, 4:31 p.m.

Panel version: 0.10

Details

Sources

Radboud University Medical Center, Nijmegen

Phenotypes

Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734
{Obesity, early-onset, susceptibility to}, 601665

OMIM

176830

Clinvar variants

Variants in POMC

Penetrance

Complete

Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

POMC was added to Congenital adrenal hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen

Congenital adrenal hypoplasia Gene: POMC