Ocular and oculo-cutaneous albinismGene: TYRP1
Comment on mode of inheritance: There are several studies that have reported a monoallelic variants in TYRP1 combined with a variant in OCA2 (PubMed: 9345097; 18680187), but there seems to be enough evidence for additional case reports where homozygous variants have been identified.
Created: 5 Sep 2016, 3:37 p.m.
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, type III from different ethnicities.
Created: 5 Sep 2016, 3:33 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.
Mode of inheritance for TYRP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TYRP1 was added to Ocular and oculo-cutaneous albinismpanel. Source: Emory Genetics Laboratory
TYRP1 was created by oniblock
TYRP1 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services