Congenital nystagmus
Gene: OCA2
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
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
Variants in this GENE are reported as part of current diagnostic practice
Gene: oca2 has been classified as Green List (High Evidence).
Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
Publications for gene: OCA2 were set to
Added phenotypes Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous for gene: OCA2
gene: OCA2 was added gene: OCA2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous