Severe early-onset obesity
Gene: MC3REnsemblGeneIds (GRCh38): ENSG00000124089
EnsemblGeneIds (GRCh37): ENSG00000124089
OMIM: 155540, Gene2Phenotype
MC3R is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
PMID:31090190 reported a systematic review and meta-analysis of genetic association studies in all ages and ethnicities, which demonstrated that rare heterozygous partial/complete LOF variants in the coding region of MC3R confer three-time increased risk of obesity in individuals. Hence, this is a susceptibility gene and the data does not suggest causation of severe early-onset obesity by MC3R variants as detailed in the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf)
This gene is also associated with susceptibility to obesity in OMIM (MIM #602025).
This gene should therefore be rated red on this panel.Created: 16 Jun 2025, 6:14 p.m. | Last Modified: 16 Jun 2025, 6:14 p.m.
Panel Version: 5.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Obesity, severe, susceptibility to, BMIQ9}, OMIM:602025
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
PMID: 31090190 described a meta analysis of ~3k cases (including children) with obesity & ~2.5k controls and found a significant enrichment of LoF MC3R variants in obesity cases (OR = 3.07). Enough evidence for the green rating.
Sources: LiteratureCreated: 12 Jan 2025, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
obesity
Publications
- PMID: 31090190
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- {Obesity, severe, susceptibility to, BMIQ9}, OMIM:602025
- OMIM
- 155540
- Clinvar variants
- Variants in MC3R
- Penetrance
- Incomplete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mc3r has been classified as Red List (Low Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MC3R were changed from obesity to {Obesity, severe, susceptibility to, BMIQ9}, OMIM:602025
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MC3R were set to PMID: 31090190
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Dmitrijs Rots (Children's Clinical University Hospital)gene: MC3R was added gene: MC3R was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: MC3R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MC3R were set to PMID: 31090190 Phenotypes for gene: MC3R were set to obesity Penetrance for gene: MC3R were set to Incomplete Review for gene: MC3R was set to GREEN