OCA2

OCA2 melanosomal transmembrane protein
OMIM: 611409, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green OCA2 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, brown oculocutaneous
  • Albinism, oculocutaneous, type II
  • Skin/hair/eye pigmentation 1, blond/brown hair
  • Skin/hair/eye pigmentation 1, blue/nonblue eyes

Green OCA2 in Ocular and oculo-cutaneous albinism


Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, brown oculocutaneous
  • Albinism, oculocutaneous, type II
  • Skin/hair/eye pigmentation 1, blond/brown hair
  • Skin/hair/eye pigmentation 1, blue/nonblue eyes

Red OCA2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green OCA2 in Pigmentary skin disorders


Version 1.10
Signed off v.1.4 on 15 Oct 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OCA2
  • Oculocutaneous albinism
  • ALBINISM, OCULOCUTANEOUS, TYPE II

Green OCA2 in Albinism or congenital nystagmus


Version 1.17
Signed off v.1.2 on 3 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Skin/hair/eye pigmentation 1, blue/nonblue eyes
  • Albinism, brown oculocutaneous
  • Albinism, oculocutaneous, type II
  • Skin/hair/eye pigmentation 1, blond/brown hair
  • Oculocutaneous Albinism

Red OCA2 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.177
Signed off v.2.7 on 25 Feb 2020

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Eye Disorders

Red OCA2 in Structural eye disease


Version 1.56
Signed off v.1.3 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Albinism, brown oculocutaneous, 203200
  • [Skin/hair/eye pigmentation 1, blue/nonblue eyes]
  • Albinism oculocutaneous, type II
  • [Skin/hair/eye pigmentation 1, blond/brown hair], 227220
  • Eye Disorders

Green OCA2 in Severe Paediatric Disorders


Version 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Albinism, oculocutaneous, type II, 203200
  • Albinism, brown oculocutaneous, 203200