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  3. TYRP1
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Structural eye disease

Gene: TYRP1

Red List (low evidence)
TYRP1 (tyrosinase related protein 1)
EnsemblGeneIds (GRCh38): ENSG00000107165
EnsemblGeneIds (GRCh37): ENSG00000107165
OMIM: 115501, Gene2Phenotype
TYRP1 is in 12 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Beermann: mouse model has microphthalmia, otherwise albinism gene
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type III; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]; 203290; 612271

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Beermann: mouse model has microphthalmia, otherwise albinism gene
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type III, 203290; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Albinism, oculocutaneous, type III, 203290
  • [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271
  • Eye Disorders
OMIM
115501
Clinvar variants
Variants in TYRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TYRP1. Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Albinism, oculocutaneous, type III, 203290 for gene: TYRP1 Publications for gene TYRP1 were changed from to 10644000

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TYRP1 was added gene: TYRP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TYRP1 was set to Phenotypes for gene: TYRP1 were set to Eye Disorders