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Groopman et al 2019 - Genes with diagnostic variants

Gene: MC4R

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: MC4R; Inheritance: AD; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Obesity autosomal dominant; OMIM phenotype MIM No.: 601665; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Obesity autosomal dominant
  • Nephropathy of unknown origin
  • MIM 601665
OMIM
155541
Clinvar variants
Variants in MC4R
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to MC4R.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: MC4R was added gene: MC4R was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: MC4R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MC4R were set to Obesity autosomal dominant; Nephropathy of unknown origin; MIM 601665