1. Panels
  2. Severe early-onset obesity
  3. MC4R
STRs in panel
Prev Next

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

2 reviews

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

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

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity (BMIQ20), OMIM:618406
  • {Obesity, resistence to (BMIQ20)}, OMIM:618306
OMIM
155541
Clinvar variants
Variants in MC4R
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MC4R were changed from Congenital Obesity; Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306; Obesity, autosomal dominant, 601665 to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to MC4R. Added phenotypes Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306 for gene: MC4R

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).

7 Jul 2016, Gel status: 3

Set Mode of Inheritance

Ayesha Ahmed (GEL)

Mode of inheritance for MC4R was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

18 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

MC4R 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 MC4R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

MC4R 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)

MC4R was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen