Severe early-onset obesity

Gene: POMC

Green List (high evidence)

POMC (proopiomelanocortin)
EnsemblGeneIds (GRCh38): ENSG00000115138
EnsemblGeneIds (GRCh37): ENSG00000115138
OMIM: 176830, Gene2Phenotype
POMC is in 3 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
{Obesity, early-onset, susceptibility to}, 601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734;Congenital Obesity;{Obesity, early-onset, susceptibility to}, 601665
Created: 17 Mar 2021, 1:45 p.m. | Last Modified: 17 Mar 2021, 1:45 p.m.
Panel Version: 2.28

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
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
OMIM
176830
Clinvar variants
Variants in POMC
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: POMC were changed from {Obesity, early-onset, susceptibility to}, 601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; Congenital Obesity; {Obesity, early-onset, susceptibility to}, 601665 to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to POMC. Added phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; {Obesity, early-onset, susceptibility to}, 601665 for gene: POMC

25 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

18 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

POMC was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene POMC was set to BIALLELIC, autosomal or pseudoautosomal

18 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

POMC was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

POMC was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen