Albinism or congenital nystagmus
Gene: TYREnsemblGeneIds (GRCh38): ENSG00000077498
EnsemblGeneIds (GRCh37): ENSG00000077498
OMIM: 606933, Gene2Phenotype
TYR is in 11 panels
1 review
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 5 Dec 2024, 4:29 p.m. | Last Modified: 5 Dec 2024, 4:29 p.m.
Panel Version: 3.11
Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update.
Biallelic variants are associated with oculocutaneous albinism. Many cases have been reported in literature (ClinGen Definitive gene-disease classification) and therefore this is appropriate for inclusion on this panel.
SNPs in TYR have been found to influence hair, eye and skin pigmentation and some studies have demonstrated an increased susceptibility to cutaneous melanoma due to certain sequence variants. There is some evidence suggesting ocular albinism may result from digenic inheritance of a TYR SNP (R402Q) alongside a heterozygous variant in the MITF gene. However, neither of these scenarios are within the remit of this panel and therefore should not be included.Created: 10 Oct 2022, 3:22 p.m. | Last Modified: 10 Oct 2022, 3:22 p.m.
Panel Version: 1.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Albinism, oculocutaneous, type IA, OMIM:203100
- Albinism, oculocutaneous, type IB, OMIM:606952
- Waardenburg syndrome/albinism, digenic, OMIM:103470
- OMIM
- 606933
- Clinvar variants
- Variants in TYR
- Penetrance
- None
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_22_MOI was removed from gene: TYR.
Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to TYR. Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; Oculocutaneous Albinism to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_22_MOI tag was added to gene: TYR.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TYR was added gene: TYR was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; Oculocutaneous Albinism