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  2. Severe early-onset obesity
  3. MC4R
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Severe early-onset obesity

Gene: MC4R

Green List (high evidence)
MC4R (melanocortin 4 receptor)
EnsemblGeneIds (GRCh38): ENSG00000166603
EnsemblGeneIds (GRCh37): ENSG00000166603
OMIM: 155541, Gene2Phenotype
MC4R is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:34238466 (review)
MC4R deficiency represents the most-commonly known monogenic cause of human obesity.
Created: 1 Nov 2021, 12:53 a.m. | Last Modified: 1 Nov 2021, 12:53 a.m.
Panel Version: 0.22

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Obesity (BMIQ20) MIM#618406

Publications

Created: 1 Nov 2021, 12:53 a.m.
Last Modified: 1 Nov 2021, 12:53 a.m.
Panel version: 0.22

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity (BMIQ20) MIM#618406
OMIM
155541
Clinvar variants
Variants in MC4R
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: mc4r 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: MC4R were changed from Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306 to Obesity (BMIQ20) MIM#618406

1 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MC4R were set to

31 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MC4R was added gene: MC4R was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MC4R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MC4R were set to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306