Griscelli Syndrome, Type 3; Gs3

Clinical Features

Phenotypes and symptoms related to Griscelli Syndrome, Type 3; Gs3

  • Pica
  • Hernia
  • Hypopigmentation of hair
  • Iris hypopigmentation
  • White eyelashes
  • Partial albinism
  • Silver-gray hair
  • Large clumps of pigment irregularly distributed along hair shaft

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Griscelli Syndrome, Type 3; Gs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
100 %
Albinism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A, RAB27A, MLPH
Specificity
10 %
Genes
100 %
Albinism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A, RAB27A, MLPH
Specificity
10 %
Genes
100 %
Griscelli syndrome type 3 (sequence analysis of MLPH gene).

By CGC Genetics in Portugal.

MLPH
Specificity
100 %
Genes
50 %
Hypopigmentation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
100 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
100 %
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel.

By Molecular Vision Laboratory in United States.

TYRP1, OCA2, SLC45A2, RET, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
MLPH.

By Fulgent Genetics Fulgent Genetics in United States.

MLPH
Specificity
100 %
Genes
50 %
Albinism Panel.

By Blueprint Genetics in Finland.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, MITF, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
GRISCELLI DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

MYO5A, RAB27A, MLPH
Specificity
67 %
Genes
100 %
Griscelli Syndrome , Panel Massive Sequencing (NGS) MLPH, MYO5A, RAB27A Genes.

By Reference Laboratory Genetics in Spain.

MYO5A, RAB27A, MLPH
Specificity
67 %
Genes
100 %
MYO5A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MYO5A
Specificity
100 %
Genes
50 %
Griscelli Syndrome type 1 (sequence analysis of MYO5A gene).

By CGC Genetics in Portugal.

MYO5A
Specificity
100 %
Genes
50 %
Albinism (NGS panel for 12 genes).

By CGC Genetics in Portugal.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
9 %
Genes
50 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
8 %
Genes
50 %
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene.

By PreventionGenetics PreventionGenetics in United States.

MYO5A
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Griscelli syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

MYO5A
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Albinism.

By Centogene AG - the Rare Disease Company in Germany.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
50 %
Griscelli syndrome, type 1: MYO5A gene sequence analysis.

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

MYO5A
Specificity
100 %
Genes
50 %
Albinism.

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

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
50 %
Albinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
MYO5A.

By Fulgent Genetics Fulgent Genetics in United States.

MYO5A
Specificity
100 %
Genes
50 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Hemophagocytic Lymphohistiocytosis Panel.

By Blueprint Genetics in Finland.

RECQL4, PRF1, MAGT1, LYST, SH2D1A, MYO5A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, STXBP2, ITK, FADD
Specificity
7 %
Genes
50 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
50 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Griscelli syndrome, type 1.

By Bioarray in Spain.

MYO5A
Specificity
100 %
Genes
50 %
ALBINISM: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
8 %
Genes
50 %
Albinisim panel.

By LifeLabs Genetics in Canada.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
50 %
Griscelli Syndrome Type 1, Sequencing MYO5A Gene.

By Reference Laboratory Genetics in Spain.

MYO5A
Specificity
100 %
Genes
50 %
Albinism , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
9 %
Genes
50 %

Alternate names

Griscelli Syndrome, Type 3; Gs3 Is also known as ;griscelli-pruniéras syndrome type 3.



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