Structural eye disease
Gene: TYRP1
Beermann: mouse model has microphthalmia, otherwise albinism geneCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Albinism, oculocutaneous, type III; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]; 203290; 612271
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Beermann: mouse model has microphthalmia, otherwise albinism geneCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Albinism, oculocutaneous, type III, 203290; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271
Publications
Source NHS GMS was added to TYRP1. Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Albinism, oculocutaneous, type III, 203290 for gene: TYRP1 Publications for gene TYRP1 were changed from to 10644000
gene: TYRP1 was added gene: TYRP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TYRP1 was set to Phenotypes for gene: TYRP1 were set to Eye Disorders