1. Panels
  2. Glaucoma (developmental)
  3. TYRP1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Glaucoma (developmental)

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: Imported from Structural eye disease 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: Imported from Structural eye disease panel version 0.48

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TYRP1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory