Ocular and oculo-cutaneous albinism
Gene: TYRComment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' only.
Biallelic variants are associated with oculocutaneous albinism. Many cases have been reported in literature (ClinGen Definitive gene-disease classification) and therefore this is appropriate for inclusion on this panel.
SNPs in TYR have been found to influence hair, eye and skin pigmentation and some studies have demonstrated an increased susceptibility to cutaneous melanoma due to certain sequence variants. There is some evidence suggesting ocular albinism may result from digenic inheritance of a TYR SNP (R402Q) alongside a heterozygous variant in the MITF gene. However, neither of these scenarios are within the remit of this panel and therefore should not be included.Created: 10 Oct 2022, 3:24 p.m. | Last Modified: 10 Oct 2022, 3:24 p.m.
Panel Version: 1.23
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.
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were changed from Oculocutaneous Albinism; Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB; Waardenburg syndrome/albinism, digenic to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470
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