Pigmentary skin disordersGene: TYR
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TYR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB for gene: TYR Publications for gene TYR were changed from to 18326704
Source London North GLH was added to TYR.
gene: TYR was added gene: TYR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Oculocutaneous albinism