Skin/hair/eye Pigmentation, Variation In, 5; Shep5

Clinical Features

Phenotypes and symptoms related to Skin/hair/eye Pigmentation, Variation In, 5; Shep5

  • Abnormality of the eye

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

Skin/hair/eye Pigmentation, Variation In, 5; Shep5 Is also known as skin/hair/eye pigmentation 5, black/nonblack hair, skin/hair/eye pigmentation 5, dark/light eyes, skin/hair/eye pigmentation 5, dark/fair skin.

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.

Skin/hair/eye Pigmentation, Variation In, 5; Shep5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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
100 %
SLC45A2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC45A2
Specificity
100 %
Genes
100 %
SLC45A2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

SLC45A2
Specificity
100 %
Genes
100 %
SLC45A2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC45A2
Specificity
100 %
Genes
100 %
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
100 %
Oculocutaneous Albinism Type 4 - SLC45A2 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SLC45A2
Specificity
100 %
Genes
100 %
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
100 %
Oculocutaneous albinism type 4.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

SLC45A2
Specificity
100 %
Genes
100 %

You can get up to 37 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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