Infantile nystagmus

Gene: TYR

Green List (high evidence)

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

2 reviews

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
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

21 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TYR was added to Infantile nystagmuspanel. Sources: Expert Review Green

19 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TYR was created by ellenmcdonagh