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Mendeliome

Gene: POMC

Green List (high evidence)

POMC (proopiomelanocortin)
EnsemblGeneIds (GRCh38): ENSG00000115138
EnsemblGeneIds (GRCh37): ENSG00000115138
OMIM: 176830, Gene2Phenotype
POMC is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 individuals reported.
Created: 1 Nov 2021, 4:01 a.m. | Last Modified: 1 Nov 2021, 4:01 a.m.
Panel Version: 0.9562

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734

Publications

Details

Mode of Inheritance
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
OMIM
176830
Clinvar variants
Variants in POMC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomc has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POMC were changed from to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734

1 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POMC were set to

1 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POMC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POMC was added gene: POMC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMC was set to Unknown