Ocular and oculo-cutaneous albinism
Gene: TYRP1
TYRP1 (tyrosinase related protein 1)
EnsemblGeneIds (GRCh38): ENSG00000107165
EnsemblGeneIds (GRCh37): ENSG00000107165
OMIM: 115501, Gene2Phenotype
TYRP1 is in 12 panels
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.
Penny Clouston (Oxford)
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Oculocutaneous Albinism
- Albinism, oculocutaneous, type III
- OMIM
- 115501
- Clinvar variants
- Variants in TYRP1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
13 Sep 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: Panel internally revised after expert review, and approved to version 1.
5 Sep 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TYRP1 was changed to BIALLELIC, autosomal or pseudoautosomal
5 Sep 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Jul 2016, Gel status: 2
Added New Source
Olivia Niblock (Genomics England Curator)TYRP1 was added to Ocular and oculo-cutaneous albinismpanel. Source: Emory Genetics Laboratory
20 Jul 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)TYRP1 was created by oniblock
20 Jul 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)TYRP1 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services