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  3. TYRP1
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Monogenic hearing loss

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

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#203290:Albinism, oculocutaneous, type III[Red reflex on transillumination of the irisRetinal pigment presentDilution of color of irisNystagmusStrabismus; Bright copper-red coloration of skin (in darker-skinned individuals)Freckled skin (in some less dark-skinned individuals)Mild hypopigmentation (in light-skinned individuals); Bright copper-red hair (in darker-skinned individuals)Reddish hair (in some less dark-skinned individuals); Normal tyrosinase; Caused by mutation in the tyrosinase-related protein 1 gene (TYRP1,)]; #612271:[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)][<omim version=1.0><clinicalSynopsisList>]

Publications

Created: 7 Feb 2016, 9:02 a.m.

Panel version: 0.105

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TYRP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert