Structural eye disease
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
Phenotypes for gene: TYR were changed from [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Eye Disorders; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470
Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to TYR. Mode of inheritance for gene TYR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} for gene: TYR Publications for gene TYR were changed from to 28778995
gene: TYR was added gene: TYR was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TYR was set to Phenotypes for gene: TYR were set to Eye Disorders