Mosaic skin disorders - deep sequencing

Gene: TYR

No list

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculocutaneous albinism

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TYR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
Tags
curated_removed
OMIM
606933
Clinvar variants
Variants in TYR
Penetrance
None
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: TYR.

5 Dec 2019, Gel status: 0

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Removed was added to TYR. Rating Changed from Green List (high evidence) to No List (delete)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TYR.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TYR was added gene: TYR was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TYR were set to Oculocutaneous albinism