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Infantile nystagmus

Gene: TYRP1

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: There are several studies that have reported a monoallelic variants in TYRP1 combined with a variant in OCA2 (PubMed: 9345097; 18680187), but there seems to be enough evidence for additional case reports where homozygous variants have been identified.
Created: 5 Sep 2016, 3:37 p.m.
Comment on list classification: Gene found in 2/4 original sources, and rated green by expert reviewer. More than 3 cases reported in OMIM for different variants in patients with Albinism, oculocutaneous, type III from different ethnicities.
Created: 5 Sep 2016, 3:33 p.m.
Created: 5 Sep 2016, 3:33 p.m.

Panel version: Imported from "Ocular and oculo-cutaneous albinism" panel version 0.12

Penny Clouston (Oxford)

Green List (high evidence)

Phenotypes
oculo-cutaneous albinism

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

Created: 5 Sep 2016, 12:42 p.m.

Panel version: Imported from "Ocular and oculo-cutaneous albinism" panel version 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type III
OMIM
115501
Clinvar variants
Variants in TYRP1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TYRP1 was created by ellenmcdonagh

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TYRP1 was added to Infantile nystagmuspanel. Sources: Expert Review Green