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  3. TYRP1
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Congenital nystagmus

Gene: TYRP1

Green List (high evidence)
TYRP1 (tyrosinase related protein 1)
EnsemblGeneIds (GRCh38): ENSG00000107165
EnsemblGeneIds (GRCh37): ENSG00000107165
OMIM: 115501, Gene2Phenotype
TYRP1 is in 6 panels

2 reviews

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

Phenotypes
Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Mar 2022, 11:22 p.m.
Last Modified: 15 Mar 2022, 11:22 p.m.
Panel version: Imported from Mendeliome panel version 0.11422

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, nystagmus is a feature.
Created: 25 Oct 2021, 4:50 a.m. | Last Modified: 25 Oct 2021, 4:50 a.m.
Panel Version: 0.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747

Publications

Created: 4 Jun 2021, 9:48 a.m.
Last Modified: 4 Jun 2021, 9:48 a.m.
Panel version: 0.62

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type III, MIM# 203290
  • MONDO:0008747
OMIM
115501
Clinvar variants
Variants in TYRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tyrp1 has been classified as Green List (High Evidence).

25 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TYRP1 were changed from Oculocutaneous Albinism; Albinism, oculocutaneous, type III to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TYRP1 were set to

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Oculocutaneous Albinism; Albinism, oculocutaneous, type III for gene: TYRP1

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TYRP1 was added gene: TYRP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to Oculocutaneous Albinism; Albinism, oculocutaneous, type III