Ocular and Oculocutaneous Albinism

Gene: OCA2

Green List (high evidence)

Single variant found causing AD OCA - p.G780S in two families (Lee, 2020) -> GOF suggested. Loss of function 2.7kb deletion is very common in sub-Saharan African populations (GeneReviews)

Created: 11 Sep 2020, 6:28 a.m. | Last Modified: 11 Sep 2020, 6:28 a.m.

Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200

Publications

• 32741191
• 20301410

Green List (high evidence)

Single variant found causing AD OCA - p.G780S in two families (Lee, 2020) -> GOF suggested

Complete penetrance for oculocutaneous albininism but variable expressivity (PMID: 24518832). No variable expressivity or incomplete penetrance reported in GeneReviews.

Loss of function

2.7kb deletion is very common in sub-Saharan African populations (GeneReviews)

Created: 11 Sep 2020, 6 a.m. | Last Modified: 11 Sep 2020, 6:02 a.m.

Panel Version: 0.4309

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
[Skin/hair/eye pigmentation 1, blond/brown hair] 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220; Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous

Publications

• PMID: 32741191
• 24518832

Variants in this GENE are reported as part of current diagnostic practice