Ocular and oculo-cutaneous albinism

Gene: TYR

Green List (high evidence)

TYR (tyrosinase)
EnsemblGeneIds (GRCh38): ENSG00000077498
EnsemblGeneIds (GRCh37): ENSG00000077498
OMIM: 606933, Gene2Phenotype
TYR is in 12 panels

3 reviews

Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

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.

Penny Clouston (Oxford)

Green List (high evidence)

Phenotypes
oculo-cutaneous albinism

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type IA
  • Albinism, oculocutaneous, type IB
  • Waardenburg syndrome/albinism, digenic
OMIM
606933
Clinvar variants
Variants in TYR
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Sep 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: Panel internally revised after expert review, and approved to version 1.

5 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

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

20 Jul 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

TYR was added to Ocular and oculo-cutaneous albinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services

20 Jul 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

TYR was created by oniblock