Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Congenital nystagmus v0.125 | OCA2 | Zornitza Stark Marked gene: OCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.125 | OCA2 | Zornitza Stark Gene: oca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.125 | OCA2 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.124 | OCA2 | Zornitza Stark Publications for gene: OCA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.4 | OCA2 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.0 | OCA2 |
Zornitza Stark 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 |