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| Structural eye disease v0.76 | OCA2 | Nicola Ragge reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, brown oculocutaneous, Albinism oculocutaneous, type II, [Skin/hair/eye pigmentation 1, blond/brown hair], [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 203200, 203200, 227220, 227220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | OCA2 | Ivone Leong edited their review of gene: OCA2: Changed phenotypes: Albinism, brown oculocutaneous, 203200, Albinism oculocutaneous, type II, [Skin/hair/eye pigmentation 1, blond/brown hair], 227220, [Skin/hair/eye pigmentation 1, blue/nonblue eyes] | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | OCA2 | Ivone Leong reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 10, 300804, ?Retinitis pigmentosa 23, 300424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | OCA2 |
Ivone Leong Source NHS GMS was added to OCA2. Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added 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 for gene: OCA2 |
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| Structural eye disease v0.2 | OCA2 |
Ellen McDonagh gene: OCA2 was added gene: OCA2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OCA2 was set to Phenotypes for gene: OCA2 were set to Eye Disorders |
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