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  2. Severe early-onset obesity
  3. POMC
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Severe early-onset obesity

Gene: POMC

Green List (high evidence)
POMC (proopiomelanocortin)
EnsemblGeneIds (GRCh38): ENSG00000115138
EnsemblGeneIds (GRCh37): ENSG00000115138
OMIM: 176830, Gene2Phenotype
POMC is in 2 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
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

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

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