Epstein Syndrome; Epstns

Description

Epstein syndrome is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness (Epstein et al., 1972).There are several other disorders caused by mutation in the MYH9 gene that share overlapping features with Epstein syndrome. May-Hegglin anomaly (OMIM ) is characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. These leukocyte inclusions are not found on classic staining of peripheral blood in Epstein syndrome. Fechtner syndrome (OMIM ) has the platelet defect accompanied by nephritis, hearing loss, and eye abnormalities, mostly cataracts. The findings of nephritis, hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent of Alport syndrome (see {301050}). Sebastian syndrome (OMIM ) is similar to May-Hegglin anomaly, but has a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders, May-Hegglin, Sebastian, Epstein, and Fechtner syndromes, are not distinct entities, but rather represent a single disorder with a continuous clinical spectrum, for which they proposed the term 'MYH9-related disease.' However, other disorders, e.g., macrothrombocytopenia and progressive sensorineural deafness (OMIM ) and a form of nonsyndromic deafness (DFNA17 ), are also caused by mutation in the MYH9 gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Epstein Syndrome; Epstns

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension
  • Thrombocytopenia
  • Proteinuria
  • Gastrointestinal hemorrhage
  • Bilateral sensorineural hearing impairment
  • Stage 5 chronic kidney disease
  • Epistaxis
And another 10 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.


Mendelian

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Epstein Syndrome; Epstns Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

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

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
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 %
MYH9 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MYH9
Specificity
100 %
Genes
100 %
MYH9 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MYH9
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
MYH9 related disorders.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

MYH9
Specificity
100 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

USH1G, USH1C, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, HARS2, GJB2, GJB6, ACTG1, COCH, CLDN14, CCDC50 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
MYH9. Complete sequencing.

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

MYH9
Specificity
100 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Epstein syndrome (sequence analysis of MYH9 gene).

By CGC Genetics in Portugal.

MYH9
Specificity
100 %
Genes
100 %
Non syndromic deafness AD (NGS panel for 33 genes).

By CGC Genetics in Portugal.

EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
100 %
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes).

By CGC Genetics in Portugal.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
May-Hegglin anomaly (sequence analysis of MYH9 gene).

By CGC Genetics in Portugal.

MYH9
Specificity
100 %
Genes
100 %
May-Hegglin anomaly (sequence analysis of MYH9 gene).

By CGC Genetics in Portugal.

MYH9
Specificity
100 %
Genes
100 %
May-hegglin anomaly.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
Deafness, autosomal dominant nonsyndromic sensorineural 17.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
Fechtner syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
Sebastian syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
May-Hegglin anomaly.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
Test for MYH9-Related Disorders.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
Esptein Syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
Macrothrombocytopenia and progressive sensorineural deafness.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MYH9
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
9 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA4, DIABLO, MSRB3, GJB2, GJB6, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, CRYM, ILDR1, OTOF, PJVK, MARVELD2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
MYH9 -Related Disorders via the MYH9 Gene.

By PreventionGenetics PreventionGenetics in United States.

MYH9
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
MYH9-Related Disorders.

By Bioscientia GmbH Center for Human Genetics in Germany.

MYH9
Specificity
100 %
Genes
100 %
DFNA17 Nonsyndromic Hearing Loss and Deafness.

By Bioscientia GmbH Center for Human Genetics in Germany.

MYH9
Specificity
100 %
Genes
100 %
Thrombocytopenia panel.

By Centogene AG - the Rare Disease Company in Germany.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, GP9
Specificity
9 %
Genes
100 %
Epstein syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MYH9
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 %
Deafness, autosomal dominant type 17.

By Centogene AG - the Rare Disease Company in Germany.

MYH9
Specificity
100 %
Genes
100 %
MYH9-related disorders.

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

MYH9
Specificity
100 %
Genes
100 %
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, POU3F4, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL4A6, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Alport Syndrome Panel.

By CeGaT GmbH in Germany.

COL4A3, COL4A4, COL4A5, CD151, MYH9, EIF2AK3
Specificity
17 %
Genes
100 %
Single gene testing MYH9.

By CeGaT GmbH in Germany.

MYH9
Specificity
100 %
Genes
100 %
Thrombocytopenia Panel.

By CeGaT GmbH in Germany.

AP3B1, MPL, MYH9, GATA1, THBD, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, RBM8A, GP9
Specificity
8 %
Genes
100 %
Sensorineural Hearing Loss.

By Asper Biogene Asper Biogene LLC in Estonia.

USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Thrombocytopenia.

By Asper Biogene Asper Biogene LLC in Estonia.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGA2B, MASTL, GP1BB, GP9
Specificity
8 %
Genes
100 %
MYH9 Sequence Analysis-Inherited.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

MYH9
Specificity
100 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Inherited Thrombocytopenia Panel.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

WAS, MYH9, GATA1
Specificity
34 %
Genes
100 %
Deafness, autosomal dominant 17.

By Praxis fuer Humangenetik Wien in Austria.

MYH9
Specificity
100 %
Genes
100 %
Fechtner syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MYH9
Specificity
100 %
Genes
100 %
Epstein syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MYH9
Specificity
100 %
Genes
100 %
May-Hegglin Anomaly.

By Praxis fuer Humangenetik Wien in Austria.

MYH9
Specificity
100 %
Genes
100 %
Sebastian syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MYH9
Specificity
100 %
Genes
100 %
Deafness, autosomal dominant 17.

By MedGene in Slovakia.

MYH9
Specificity
100 %
Genes
100 %
Epstein syndrome.

By MedGene in Slovakia.

MYH9
Specificity
100 %
Genes
100 %
Fechtner syndrome.

By MedGene in Slovakia.

MYH9
Specificity
100 %
Genes
100 %
May-Hegglin Anomaly.

By MedGene in Slovakia.

MYH9
Specificity
100 %
Genes
100 %
Sebastian syndrome.

By MedGene in Slovakia.

MYH9
Specificity
100 %
Genes
100 %
MYH9 related syndromes: MYH9 gene sequence analysis.

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

MYH9
Specificity
100 %
Genes
100 %
DEAFNESS A.D..

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

EYA4, WFS1, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, TMC1, GSDME, GJB3, MIR96 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
DEAFNESS A.D. and A.R..

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

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, ACTG1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Thrombocytopenia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
10 %
Genes
100 %
MYH9.

By Fulgent Genetics Fulgent Genetics in United States.

MYH9
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Thrombocytopenia Panel.

By Blueprint Genetics in Finland.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Non-Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
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 %
Alport Syndrome Panel.

By Blueprint Genetics in Finland.

COL4A3, COL4A4, COL4A5, CD151, COL4A6, MYH9
Specificity
17 %
Genes
100 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
May-Hegglin thrombocytopenia.

By Bioarray in Spain.

MYH9
Specificity
100 %
Genes
100 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MYH9, MEFV, CD2AP , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
HEREDITARY MACROTHROMBOCYTOPENIA (MAY-HEGGLIN/ FLECHTNER/ EPSTEIN SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

MYH9
Specificity
100 %
Genes
100 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

WFS1, GJB2, GJB6, ACTG1, COCH, COL11A2, TECTA, SIX1, GJB3, MYH9
Specificity
10 %
Genes
100 %
Macrothrombocytopenia and Progressive Sensorineural Deafness, Sequencing MYH9 Gene.

By Reference Laboratory Genetics in Spain.

MYH9
Specificity
100 %
Genes
100 %
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

EYA4, WFS1, MYO7A, GJB2, GJB6, TBC1D24, ACTG1, COCH, CCDC50, MYO6, GRHL2, HOMER2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, JAK2, GP1BB, SRC, GP9
Specificity
7 %
Genes
100 %
Fechtner syndrome.

By Labor Dr. Wisplinghoff in Germany.

MYH9
Specificity
100 %
Genes
100 %
Deafness, autosomal dominant nonsyndromic sensorineural 17.

By Labor Dr. Wisplinghoff in Germany.

MYH9
Specificity
100 %
Genes
100 %
MYH9-Related Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MYH9
Specificity
100 %
Genes
100 %

Alternate names

Epstein Syndrome; Epstns Is also known as macrothrombocytopenia, nephritis, and deafness.



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