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  2. Ocular and Oculocutaneous Albinism
  3. MC1R
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Ocular and Oculocutaneous Albinism

Gene: MC1R

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Evidence for a modifier effect only.
Created: 4 Jun 2021, 8:41 a.m. | Last Modified: 4 Jun 2021, 8:41 a.m.
Panel Version: 0.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Albinism, oculocutaneous, type II, modifier of}, MIM# 203200

Publications

Created: 4 Jun 2021, 8:41 a.m.
Last Modified: 4 Jun 2021, 8:41 a.m.
Panel version: 0.46

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200
OMIM
155555
Clinvar variants
Variants in MC1R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mc1r has been classified as Amber List (Moderate Evidence).

4 Jun 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200

4 Jun 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MC1R were set to

4 Jun 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mc1r has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MC1R was added gene: MC1R was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MC1R was set to Unknown