MC1R:Ensemblv90

melanocortin 1 receptor
OMIM: 155555, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MC1R in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.12

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200

Amber MC1R in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200

Amber MC1R in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200