Skin/hair/eye Pigmentation, Variation In, 6; Shep6

Clinical Features

Phenotypes and symptoms related to Skin/hair/eye Pigmentation, Variation In, 6; Shep6

  • Abnormality of the hair

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, 6; Shep6 Is also known as skin/hair/eye pigmentation 6, blue/green eyes, skin/hair/eye pigmentation 6, blond/brown hair.

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, 6; Shep6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amelogenesis imperfecta type IIA5 (sequence analysis of SLC24A4 gene).

By CGC Genetics (Portugal).

SLC24A4
Specificity
100 %
Genes
100 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNNM4, SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, ROGDI, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20
Specificity
6 %
Genes
100 %
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests (United States).

SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20
Specificity
7 %
Genes
100 %
Amelogenesis imperfecta and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20
Specificity
7 %
Genes
100 %
Amelogenesis imperfecta and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20
Specificity
7 %
Genes
100 %
Skin hair eye pigmentation 6.

By Centogene AG - the Rare Disease Company (Germany).

SLC24A4
Specificity
100 %
Genes
100 %
SLC24A4.

By Fulgent Genetics Fulgent Genetics (United States).

SLC24A4
Specificity
100 %
Genes
100 %
Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel.

By Blueprint Genetics (Finland).

SLC24A4, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMB3, LTBP3, MMP20
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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