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Newborns main panel

Gene: POMC

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
60 YEARS OF POMC: The proopiomelanocortin gene: discovery, deletion and disease - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency
OMIM
176830
Clinvar variants
Variants in POMC
Penetrance
None
Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: POMC were changed from Obesity, adrenal insufficiency, and red hair due to POMC deficiency to Obesity, adrenal insufficiency, and red hair due to POMC deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: POMC were changed from Obesity, adrenal insufficiency, and red hair due to POMC deficiency; Obesity, adrenal insufficiency, and red hair due to POMC deficiency to Obesity, adrenal insufficiency, and red hair due to POMC deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency for gene: POMC

14 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: POMC were changed from Obesity, adrenal insufficiency, and red hair due toPOMCdeficiency; Obesity, adrenal insufficiency, and red hair due to POMC deficiency to Obesity, adrenal insufficiency, and red hair due to POMC deficiency

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Obesity, adrenal insufficiency, and red hair due toPOMCdeficiency for gene: POMC

6 Jun 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: POMC were changed from Obesity, adrenal insufficiency, and red hair due toPOMCdeficiency to Obesity, adrenal insufficiency, and red hair due to POMC deficiency

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to POMC. Added phenotypes Obesity, adrenal insufficiency, and red hair due toPOMCdeficiency for gene: POMC Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to POMC. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Obesity, adrenal insufficiency, and red hair due toPOMCdeficiency for gene: POMC

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: POMC was added gene: POMC was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal