MYH9 gene related symptoms and diseases

All the information presented here about the MYH9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYH9 gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Epistaxis Uncommon - Between 30% and 50% cases
Prolonged bleeding time Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MYH9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Bladder exstrophy
  • Giant platelets
  • Macrothrombocytopenia
  • Abnormal thrombosis
  • Impaired platelet aggregation
  • Bilateral sensorineural hearing impairment
  • Single umbilical artery
  • Microscopic hematuria

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MYH9 gene

Here you will find a list of rare diseases related to the MYH9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63


Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63

  • Hearing impairment
  • Sensorineural hearing impairment
  • Rod-cone dystrophy
  • Abnormality of the kidney
  • Congenital sensorineural hearing impairment


More info about DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63

SOURCES: OMIM MESH

DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17


Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17

  • Hearing impairment
  • Severe hearing impairment
  • High-frequency hearing impairment


More info about DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17

SOURCES: OMIM

MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS


Alternate names

MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS Is also known as may-hegglin anomaly, apsm, formerly, macrothrombocytopenia, nephritis, and deafness, fechtner syndrome, alport syndrome with macrothrombocytopenia, formerly, macrothrombocytopenia with dispersed leukocytic inclusions, bleeding disorder, platelet-type, 6, macroth

Description

Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to be comprised of 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (OMIM )-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (Peterson et al., 1985). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, Balduini et al. (2011) noted that all patients present leukocyte inclusion bodies, although of variable size. Seri et al. (2003) proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17 ) is also caused by mutation in the MYH9 gene.

Most common symptoms of MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Gait disturbance
  • Renal insufficiency


More info about MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

SOURCES: ORPHANET OMIM

MYH9-RELATED DISEASE


Alternate names

MYH9-RELATED DISEASE Is also known as myh9-related disorder, myh9-rd, myh9-related syndrome, myh9-related syndromic thrombocytopenia

Description

MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.

Most common symptoms of MYH9-RELATED DISEASE

  • Thrombocytopenia
  • Epistaxis
  • Prolonged bleeding time


More info about MYH9-RELATED DISEASE

SOURCES: ORPHANET

NODULAR FASCIITIS


Alternate names

NODULAR FASCIITIS Is also known as pseudosarcomatous fasciitis, pseudosarcomatous fibromatosis


More info about NODULAR FASCIITIS

SOURCES: ORPHANET

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA


Alternate names

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna


More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

SOURCES: ORPHANET


Potential gene panels for MYH9 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

NGS Hearing Loss Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

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

MYH9 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 MYH9 gene.

More info about this panel

MYH9 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 MYH9 gene.

More info about this panel

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

MYH9 related disorders Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the MYH9 gene.

More info about this panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13

More info about this panel

Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1

More info about this panel

MYH9. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MYH9 gene.

More info about this panel

Audiome (hearing loss panel) Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C

More info about this panel

Epstein syndrome (sequence analysis of MYH9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYH9 gene.

More info about this panel

Non syndromic deafness AD (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Non syndromic deafness AD (NGS panel for 33 genes) that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA

More info about this panel

Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel

Portugal.

By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN

More info about this panel

May-Hegglin anomaly (sequence analysis of MYH9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYH9 gene.

More info about this panel

May-Hegglin anomaly (sequence analysis of MYH9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYH9 gene.

More info about this panel

May-hegglin anomaly Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

Deafness, autosomal dominant nonsyndromic sensorineural 17 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

Fechtner syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

Sebastian syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

May-Hegglin anomaly Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

Test for MYH9-Related Disorders Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

Esptein Syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

Macrothrombocytopenia and progressive sensorineural deafness Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MYH9 gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection that also includes the following genes: SMPX TECTA TJP2 TMPRSS3 OTOA TMC1 TRIOBP CCDC50 GIPC3 SLC17A8

More info about this panel

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel

MYH9-Related Disorders via MYH9 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MYH9 gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

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

Thrombocytopenia Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

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

Thrombocytopenia Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

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

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

MYH9-Related Disorders Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the MYH9 gene.

More info about this panel

DFNA17 Nonsyndromic Hearing Loss and Deafness Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the MYH9 gene.

More info about this panel

Thrombocytopenia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Thrombocytopenia panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 ITGA2B ITGB3

More info about this panel

Epstein syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYH9 gene.

More info about this panel

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

Deafness, autosomal dominant type 17 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYH9 gene.

More info about this panel

MYH9-related disorders Panel

United Kingdom.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust

This panel specifically test the MYH9 gene.

More info about this panel

Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel that also includes the following genes: SMPX TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8

More info about this panel

Alport Syndrome Panel Panel

Germany.

By CeGaT GmbH Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 EIF2AK3 MYH9

More info about this panel

Single gene testing MYH9 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MYH9 gene.

More info about this panel

Thrombocytopenia Panel Panel

Germany.

By CeGaT GmbH Thrombocytopenia Panel that also includes the following genes: THBD ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 AP3B1 ITGA2B ITGB3

More info about this panel

Sensorineural Hearing Loss Panel

Estonia.

By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN

More info about this panel

Thrombocytopenia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thrombocytopenia that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

MYH9 Sequence Analysis-Inherited Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the MYH9 gene.

More info about this panel

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

Inherited Thrombocytopenia Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti Inherited Thrombocytopenia Panel that also includes the following genes: WAS GATA1 MYH9

More info about this panel

Deafness, autosomal dominant 17 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYH9 gene.

More info about this panel

Fechtner syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYH9 gene.

More info about this panel

Epstein syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYH9 gene.

More info about this panel

May-Hegglin Anomaly Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYH9 gene.

More info about this panel

Sebastian syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYH9 gene.

More info about this panel

Deafness, autosomal dominant 17 Panel

Slovakia.

By MedGene

This panel specifically test the MYH9 gene.

More info about this panel

Epstein syndrome Panel

Slovakia.

By MedGene

This panel specifically test the MYH9 gene.

More info about this panel

Fechtner syndrome Panel

Slovakia.

By MedGene

This panel specifically test the MYH9 gene.

More info about this panel

May-Hegglin Anomaly Panel

Slovakia.

By MedGene

This panel specifically test the MYH9 gene.

More info about this panel

Sebastian syndrome Panel

Slovakia.

By MedGene

This panel specifically test the MYH9 gene.

More info about this panel

MYH9 related syndromes: MYH9 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MYH9 gene.

More info about this panel

DEAFNESS A.D. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. that also includes the following genes: TECTA TJP2 WFS1 ACTG1 TMC1 CCDC50 SLC17A8 COCH COL11A2 MYH14

More info about this panel

DEAFNESS A.D. and A.R. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. and A.R. that also includes the following genes: TECTA TJP2 TMPRSS3 USH1C WFS1 CDH23 ACTG1 PCDH15 WHRN BSND

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

Hearing Loss: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C

More info about this panel

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 MPL MYH9

More info about this panel

MYH9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYH9 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Nephrotic Syndrome Panel Panel

Finland.

By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Non-Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

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

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

Alport Syndrome Panel Panel

Finland.

By Blueprint Genetics Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 COL4A6 MYH9

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

May-Hegglin thrombocytopenia Panel

Spain.

By Bioarray

This panel specifically test the MYH9 gene.

More info about this panel

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set that also includes the following genes: SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1 CRB2

More info about this panel

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel

HEREDITARY MACROTHROMBOCYTOPENIA (MAY-HEGGLIN/ FLECHTNER/ EPSTEIN SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MYH9 gene.

More info about this panel

DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) that also includes the following genes: SIX1 TECTA WFS1 ACTG1 COCH COL11A2 GJB2 GJB6 MYH9

More info about this panel

DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL that also includes the following genes: SIX1 SMPX TECTA TJP2 WFS1 ACTG1 P2RX2 DIAPH3 OSBPL2 CD164

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Macrothrombocytopenia and Progressive Sensorineural Deafness, Sequencing MYH9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MYH9 gene.

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Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 TMC1 HOMER2 CCDC50 SLC17A8 COCH

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Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: RUNX1 SRC WAS ADAMTS13 CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

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Fechtner syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the MYH9 gene.

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Deafness, autosomal dominant nonsyndromic sensorineural 17 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the MYH9 gene.

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MYH9-Related Disorders: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MYH9 gene.

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