Pigmentary skin disorders
Gene: MC1R
Not a Mendelian cause of diseaseCreated: 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
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.
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)
Source London North GLH was added to MC1R.
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