Skin/hair/eye Pigmentation, Variation In, 1; Shep1

Description

Genetic Heterogeneity of Variation in Skin/Hair/Eye PigmentationMultiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM ) is determined by variation at the MC1R locus (OMIM ) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM ) encompasses pigment variation influenced by the TYR gene (OMIM ); SHEP4 (OMIM ), that influenced by the SLC24A5 gene (OMIM ). Variation in the SLC45A2 (OMIM ) and SLC24A4 (OMIM ) genes result in the phenotypic associations SHEP5 (OMIM ) and SHEP6 (OMIM ), respectively. Sequence variation thought to affect expression of KITLG (OMIM ) results in the SHEP7 (OMIM ) phenotypic association. SHEP8 (OMIM ) is associated with variation in the IRF4 gene (OMIM ). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM ) influences the SHEP9 association (OMIM ). The SHEP10 association (OMIM ) comprises variation in the TPCN2 gene (OMIM ), and SHEP11 (OMIM ) is associated with polymorphism near the TYRP1 gene (OMIM ).

Clinical Features

Phenotypes and symptoms related to Skin/hair/eye Pigmentation, Variation In, 1; Shep1

  • Abnormality of the eye
  • Albinism
  • Generalized hypopigmentation
  • Red hair

Incidence and onset information

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, 1; Shep1 Is also known as eye color, blue/nonblue, skin/hair/eye pigmentation 1, blue/nonblue eyes, brown eye color 2, eycl3, bey2, eye color 3, skin/hair/eye pigmentation 1, blue/brown eyes, eye color, brown/blue, hair color 3, skin/hair/eye pigmentation 1, blond/brown hair, hcl3.

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.


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Skin/hair/eye Pigmentation, Variation In, 1; Shep1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center (Germany).

RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, SGCE, SGSH, STIL, SLC16A2, SLC2A1, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMS , (...)

View the complete list with 245 more genes
Specificity
1 %
Genes
50 %
Angelman Syndrome and Differential Diagnoses.

By MGZ Medical Genetics Center (Germany).

SLC9A6, KDM5C, CDKL5, SYNGAP1, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, NEXMIF, DYRK1A, FOXG1, HERC2, MECP2, MEF2C, NRXN1, ATRX
Specificity
5 %
Genes
50 %
HERC2 (NGS sequencing).

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

HERC2
Specificity
100 %
Genes
50 %
AllNeuro panel.

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

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
50 %
Rett, Syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

BDNF, SCN2A, CDKL5, STXBP1, TCF4, UBE3A, FOXP2, SHANK3, ARX, NTNG1, FOXG1, FOXP1, ALDH5A1, HERC2, KCNQ2, MECP2, MEF2C, PLP1
Specificity
6 %
Genes
50 %

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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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