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Prepair 1000+

Gene: TYR

Green List (high evidence)

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Two types of OCA1 are described in the literature. OCA1A is the most severe form of the disorder. Tyrosinase activity is completely absent and melanin pigment cannot be detected in the skin, hair or eyes of individuals with OCA1. There is low tyrosinase activity in individuals with OCA1B, but some residual activity is present allowing some melanin to be produced, albeit at a reduced amount. There is a MONDO lumping the two types: oculocutaneous albinism type 1 (MONDO:0018135).

Congenital onset. Well established gene-disease association.

OCA1A is caused by null variants that produce a completely inactive enzyme. OCA1B results from partially inactive enzymes (hom or c.het even with a null variant). Most reports are biallelic, the AD phenotypes don't appear very solid, with the same reports pertaining to the same variants occurring in cis or by itself, and in older papers.
Created: 6 Feb 2025, 3:19 a.m. | Last Modified: 6 Feb 2025, 3:19 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculocutaneous albinism type 1 (MONDO:0018135); Albinism, oculocutaneous, type IA, MIM#203100; Albinism, oculocutaneous, type IB, MIM#606952

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Oculocutaneous albinism type 1 (MONDO:0018135)
  • Albinism, oculocutaneous, type IA, MIM#203100
  • Albinism, oculocutaneous, type IB, MIM#606952
OMIM
606933
Clinvar variants
Variants in TYR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, 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).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA, 203100 (3) to Oculocutaneous albinism type 1 (MONDO:0018135); Albinism, oculocutaneous, type IA, MIM#203100; Albinism, oculocutaneous, type IB, MIM#606952

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TYR were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Albinism, oculocutaneous, type IA, 203100 (3) for gene: TYR

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TYR was added gene: TYR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)