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Aminoacidopathy

Gene: TYR

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

TYR encodes tyrosinase which vital in melanin synthesis. Reported individuals have an error in tyrosinase metabolism thus affecting melanin synthesis. >5 probands have been reported with errors in tyrosinase metabolism.

Classified Definitive by Aminoacidopathy GCEP on 28/08/2020 - https://search.clinicalgenome.org/CCID:006490
Sources: ClinGen
Created: 18 Jul 2024, 1:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
oculocutaneous albinism type 1 MONDO:0018135

Publications

Created: 18 Jul 2024, 1:46 a.m.

Panel version: 1.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • oculocutaneous albinism type 1 MONDO:0018135
OMIM
606933
Clinvar variants
Variants in TYR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tyr has been classified as Green List (High Evidence).

18 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tyr has been classified as Green List (High Evidence).

18 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: TYR was added gene: TYR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYR were set to 2511845; 32411182; 31199599; 29052256 Phenotypes for gene: TYR were set to oculocutaneous albinism type 1 MONDO:0018135 Review for gene: TYR was set to GREEN