Pigmentary skin disorders

Gene: MC1R

Red List (low evidence)

MC1R (melanocortin 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000258839
EnsemblGeneIds (GRCh37): ENSG00000258839
OMIM: 155555, Gene2Phenotype
MC1R is in 2 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Not a Mendelian cause of disease
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to melanoma; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to facial pigmented spots

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MC1R; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Susceptibility to facial pigmented spots
  • Susceptibility to congenital melanocytic naevi
  • Pigmentation
  • Susceptibility to melanoma
OMIM
155555
Clinvar variants
Variants in MC1R
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Red was added to MC1R. Added phenotypes Susceptibility to facial pigmented spots; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to melanoma for gene: MC1R Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to MC1R.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MC1R was added gene: MC1R was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MC1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC1R were set to Susceptibility to melanoma; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to facial pigmented spots