Griscelli Syndrome, Type 1; Gs1

Description

Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

Clinical Features

Top most frequent phenotypes and symptoms related to Griscelli Syndrome, Type 1; Gs1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Hypertonia
  • Recurrent infections
And another 17 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Griscelli Syndrome, Type 1; Gs1 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
2 %
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
5 %
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
5 %
Genes
100 %
MYO5A. Complete sequencing.

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

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

By CGC Genetics in Portugal.

MYO5A
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene.

By PreventionGenetics PreventionGenetics in United States.

MYO5A
Specificity
100 %
Genes
100 %
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
4 %
Genes
100 %
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
100 %
Griscelli syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

MYO5A
Specificity
100 %
Genes
100 %
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
100 %
Albinism.

By Centogene AG - the Rare Disease Company in Germany.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
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
4 %
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
2 %
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
4 %
Genes
100 %
Griscelli syndrome, type 1: MYO5A gene sequence analysis.

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

MYO5A
Specificity
100 %
Genes
100 %
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
100 %
Albinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
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
100 %
MYO5A.

By Fulgent Genetics Fulgent Genetics in United States.

MYO5A
Specificity
100 %
Genes
100 %
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
100 %
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
5 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Griscelli syndrome, type 1.

By Bioarray in Spain.

MYO5A
Specificity
100 %
Genes
100 %
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
100 %
GRISCELLI DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

MYO5A, RAB27A, MLPH
Specificity
34 %
Genes
100 %
Albinisim panel.

By LifeLabs Genetics in Canada.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
Griscelli Syndrome Type 1, Sequencing MYO5A Gene.

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

MYO5A, RAB27A, MLPH
Specificity
34 %
Genes
100 %
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
100 %

Alternate names

Griscelli Syndrome, Type 1; Gs1 Is also known as griscelli syndrome with neurologic impairment, partial albinism and primary neurologic disease without hemophagocytic syndrome, griscelli syndrome, cutaneous and neurologic type;griscelli-pruniéras syndrome type 1; hypopigmentation-neurologic impairment syndrome.



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