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  2. Photosensitivity Syndromes
  3. TYR
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Photosensitivity Syndromes

Gene: TYR

Red List (low evidence)
TYR (tyrosinase)
EnsemblGeneIds (GRCh38): ENSG00000077498
EnsemblGeneIds (GRCh37): ENSG00000077498
OMIM: 606933, Gene2Phenotype
TYR is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not true photosensitivity.
Created: 24 Apr 2021, 1:12 a.m. | Last Modified: 24 Apr 2021, 1:12 a.m.
Panel Version: 0.47

Phenotypes
Albinism, oculocutaneous, type IA, MIM# 203100

Created: 24 Apr 2021, 1:12 a.m.
Last Modified: 24 Apr 2021, 1:12 a.m.
Panel version: 0.47

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type IA, MIM# 203100
OMIM
606933
Clinvar variants
Variants in TYR
Penetrance
None
Panels with this gene

History Filter Activity

24 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tyr has been classified as Red List (Low Evidence).

24 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100

24 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tyr has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TYR was added gene: TYR was added to Photosensitivity syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TYR was set to Unknown