BLOC1S6 gene related symptoms and diseases
All the information presented here about the BLOC1S6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BLOC1S6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Nystagmus | Very Common - Between 80% and 100% cases |
| Fever | Very Common - Between 80% and 100% cases |
| Thrombocytopenia | Very Common - Between 80% and 100% cases |
| Hypopigmentation of the skin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with BLOC1S6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Leukopenia
- Recurrent skin infections
- Albinism
- Congenital nystagmus
- Ocular albinism
- Hypopigmentation of the fundus
Rare diseases associated to BLOC1S6 gene
Here you will find a list of rare diseases related to the BLOC1S6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HERMANSKY-PUDLAK SYNDROME TYPE 9
Alternate names
HERMANSKY-PUDLAK SYNDROME TYPE 9 Is also known as hps9
Most common symptoms of HERMANSKY-PUDLAK SYNDROME TYPE 9
- Seizures
- Nystagmus
- Fever
- Thrombocytopenia
- Hypopigmentation of the skin
More info about HERMANSKY-PUDLAK SYNDROME TYPE 9
Search interest in BLOC1S6
Potential gene panels for BLOC1S6 gene
Ocular Albinism and Hermansky Pudlak Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Ocular Albinism and Hermansky Pudlak Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
Comprehensive Pulmonary Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3
More info about this panel United States.
Platelet Disorders Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 GATA2 AP3B1
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panel United States.
BLOC1S6 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the BLOC1S6 gene.
More info about this panel United States.
BLOC1S6 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the BLOC1S6 gene.
More info about this panel United States.
Albinism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Albinism sequencing panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
Albinism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Albinism Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
BLOC1S6 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the BLOC1S6 gene.
More info about this panel Germany.
Hermansky-Pudlak Syndrome Panel (9 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Hermansky-Pudlak Syndrome Panel (9 Genes) that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel United States.
PulmoGene Panel (64 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 HPS3 HPS4
More info about this panel United States.
Hermansky-Pudlak Syndrome Type 9 (HPS9) via BLOC1S6/PLDN Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the BLOC1S6 gene.
More info about this panel United States.
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panel United States.
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel United States.
Hypopigmentation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
Platelet bleeding disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel United States.
Platelet bleeding disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel United States.
Platelet bleeding disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel United States.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
Hermansky-Pudlak syndrome Panel Panel
Germany.
By CeGaT GmbH Hermansky-Pudlak syndrome Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel Germany.
Hermansky-Pudlak Syndrome Panel Panel
Germany.
By CeGaT GmbH Hermansky-Pudlak Syndrome Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel Germany.
Oculocutaneous Albinism Panel
Estonia.
By Asper Biogene Asper Biogene LLC Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel Estonia.
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
United States.
By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
aCGH Deletion/Duplication Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB
More info about this panel United States.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
United States.
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panel United States.
Pulmonary Disease: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panel United States.
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel that also includes the following genes: SFTPA1 SFTPB SFTPC SFTPD TERT HPS3 HPS4 DTNBP1 HPS6 BLOC1S3
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2
More info about this panel United States.
Hermansky-Pudlak Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hermansky-Pudlak Syndrome NGS Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel United States.
Lung Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panel United States.
BLOC1S6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BLOC1S6 gene.
More info about this panel United States.
Albinism Panel Panel
Finland.
By Blueprint Genetics Albinism Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel Finland.
Platelet Function Disorder Panel Panel
Finland.
By Blueprint Genetics Platelet Function Disorder Panel that also includes the following genes: RUNX1 TBXA2R THPO WIPF1 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6
More info about this panel Finland.
Bleeding Disorder/Coagulopathy Panel Panel
Finland.
By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Hermansky-Pudlak Syndrome Panel Panel
Finland.
By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
HERMANSKY-PUDLAK SYNDROME: NGS PANEL- Panel
Spain.
By Laboratorio de Genetica Clinica SL HERMANSKY-PUDLAK SYNDROME: NGS PANEL- that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel Spain.
HERMANSKY-PUDLAK SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL HERMANSKY-PUDLAK SYNDROME that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel Spain.
Hermansky-Pudlak Syndrome Type 9 , Sequencing BLOC1S6 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the BLOC1S6 gene.
More info about this panel Spain.
Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panel Spain.
Hermansky-Pudlak Syndrome , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Hermansky-Pudlak Syndrome , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panel Spain.
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