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 1.10

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 1.23

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 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green OCA2 in Pigmentary skin disorders


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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 3.5
Latest signed off version: v3.0 (22 Mar 2023)

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 4.83
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red OCA2 in Structural eye disease


Version 3.76
Latest signed off version: v3.0 (22 Mar 2023)

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 1.184

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