Albinism, Oculocutaneous, Type Iii; Oca3
Genes related to Albinism, Oculocutaneous, Type Iii; Oca3
- TYRP1
- LURAP1L-AS1
Clinical Features
Phenotypes and symptoms related to Albinism, Oculocutaneous, Type Iii; Oca3
- Nystagmus
- Strabismus
- Hypopigmentation of the skin
- Cutaneous photosensitivity
- Albinism
- Freckling
- Iris hypopigmentation
- Red hair
- Partial albinism
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Albinism, Oculocutaneous, Type Iii; Oca3 Is also known as roca, oculocutaneous albinism, type iii, albinism iii, xanthism, rufous oculocutaneous albinism.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Albinism, Oculocutaneous, Type Iii; Oca3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
50 % |
TYRP1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TYRP1
Specificity
100 %
Genes
50 % |
TYRP1 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
TYRP1
Specificity
100 %
Genes
50 % |
TYRP1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
TYRP1
Specificity
100 %
Genes
50 % |
Ocular Albinism and Hermansky Pudlak Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, AP3B1, MC1R, OCA2, BLOC1S6
Specificity
6 %
Genes
50 % |
Oculocutaneous Albinism Type 3 - TYRP1 Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
TYRP1
Specificity
100 %
Genes
50 % |
Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
TYR, TYRP1, SLC45A2, SLC24A5, LRMDA, OCA2
Specificity
17 %
Genes
50 % |
Oculocutaneous albinism type 3.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
TYRP1
Specificity
100 %
Genes
50 % |
You can get up to 38 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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