Ocular and oculo-cutaneous albinismGene: TYR
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Comment on list classification: Gene found in 2/4 original sources, and rated green by expert reviewer. More than 3 cases reported in OMIM for different variants in patients with albinism, oculocutaneous from different ethnicities.
Created: 5 Sep 2016, 3:29 p.m.
Variants in this GENE are reported as part of current diagnostic practice
13.09.2016: Panel internally revised after expert review, and approved to version 1.
This gene has been classified as Green List (High Evidence).
TYR was added to Ocular and oculo-cutaneous albinismpanel. Source: Emory Genetics Laboratory Model of inheritance for gene TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
TYR was added to Ocular and oculo-cutaneous albinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
TYR was created by oniblock