Glaucoma (developmental)
Gene: TYR
Oh: involved in eyelid development/cryptophthalmos in a mouse model, otherwise involved in ocular albinismCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB; Waardenburg syndrome/albinism, digenic; [Skin/hair/eye pigmentation 3, blue/green eyes]; [Skin/hair/eye pigmentation 3, light/dark/freckling skin]; {Melanoma, cutaneous malignant, susceptibility to, 8}; 203100; 606952; 103470; 601800; 601800; 601800
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Oh: involved in eyelid development/cryptophthalmos in a mouse model, otherwise involved in ocular albinismCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Albinism, oculocutaneous, type IA, 203100; Albinism, oculocutaneous, type IB, 606952; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, blue/green eyes]; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; {Melanoma, cutaneous malignant, susceptibility to, 8}
Publications
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
TYR was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory