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Hearing loss

Gene: MYH9

Green List (high evidence)

MYH9 (myosin heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 15 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:55 p.m.
Comment on mode of inheritance: Not on imprinted gene list.
Created: 17 Feb 2016, 5:12 p.m.

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#153640:Fechtner syndrome[High-tone sensorineural deafness (67% of patients); Congenital cataractsJuvenile glaucoma; NephritisEnd stage renal disease (20-40 years)(28% of patients); ThrombocytopeniaGiant plateletsLeukocyte inclusion bodies (Dohle-like bodies)Variable bleeding episodes (menorrhagia, easy bruisability, postoperative hemorrhage); ProteinuriaHematuriaLeukocyte inclusion bodies (EM) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasmModerate to severe thrombocytopenia (30-90 x 10(9)/l)Normal to prolonged bleeding timeMedian mean platelet volume (MPV) 20flNormal platelet aggregation response to epinephrine, arachidonic acid (AA), adenosine 5' -diphosphate (ADP), collagen, and ristocetin]; #153650:Epstein syndrome[Deafness, bilateral sensorineural, high frequency (100% of patients); Cataract (Alport syndrome with macrothrombocytopenia)No cataract (Epstein syndrome); Hypertension, moderate, secondary to renal disease; NephritisEnd stage renal disease (33% of patients)Hypertension, moderate; Mild bleeding episodes (epistaxis, GI bleeding, menorrhagia)ThrombocytopeniaGiant plateletsNo leukocyte inclusion bodies on Giemsa stainingMYH9-positive inclusions on immunohistochemical staining; Microscopic hematuriaProteinuriaSevere thrombocytopenia (30-60 x 10(9)/L)Normal-prolonged bleeding timeReduced platelet aggregation response to ADP, collagen, epinephrine]; #155100:May-Hegglin anomaly[Myocardial infarction (secondary to coronary artery thrombosis); No kidney disease; Mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia)ThrombocytopeniaGiant plateletsSky-blue leukocyte inclusion bodies (Dohle-like bodies) that contain clusters of ribosomes oriented along parallel microfilaments; Thrombocytopenia, mild-moderate (60-100 x 10(9)/L)Prolonged bleeding timeMedian mean platelet volume (MPV) 12.5fLNormal platelet aggregation response to epinephrine, ADP, collagen, and ristocetin]; #600208:Macrothrombocytopenia and progressive sensorineural deafness[Hearing loss, progressive sensorineural; No cataracts; No kidney disease; ThrombocytopeniaGiant plateletsNo leukocyte inclusions on Giemsa stainingMYH9-positive inclusions on immunohistochemical stainingVariable bleeding episodesAsymptomatic (easy bruisability, postoperative hemorrhage); Thrombocytopenia (33-120 x 10(9)/L)Normal to prolonged bleeding time]; #603622:Deafness, autosomal dominant 17[Hearing loss, high-frequency (onset in childhood-adolescence)Deafness, moderate-severe (onset in third decade)Cochleosaccular dysplasiaOrgan of Corti degeneration]; #605249:Sebastian syndrome[No deafness; No cataracts; No nephritis; Asymptomatic to mild bleeding episodes (epistaxis, postoperative hemorrhage)ThrombocytopeniaGiant plateletsLeukocyte inclusion bodies (Dohle-like bodies); Mild to moderate thrombocytopenia (40-120 x 10(9)/l)Median mean platelet volume (MPV) 18flMildly prolonged bleeding time 10-12 minutesNormal platelet aggregation response to arachidonic acid (AA), adenosine 5' -diphosphate (ADP), collagen, and ristocetin]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:55 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Dominant
  • May-Hegglin anomaly, 155100
  • Fechtner syndrome, 153640
  • Sebastian syndrome, 605249
  • Deafness, autosomal dominant 17, 603622
  • Epstein syndrome, 153650
  • Macrothrombocytopenia and progressive sensorineural deafness, 600208
OMIM
160775
Clinvar variants
Variants in MYH9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MYH9 were set to Nonsyndromic Hearing Loss, Dominant; May-Hegglin anomaly, 155100; Fechtner syndrome, 153640; Sebastian syndrome, 605249; Deafness, autosomal dominant 17, 603622; Epstein syndrome, 153650; Macrothrombocytopenia and progressive sensorineural deafness, 600208

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MYH9 were set to PMID:10603121; 10739770; 10973259; 10973260; 11023810; 11093280; 11159552; 11590545; 11752022; 11776386; 11935325; 11943476; 12237319; 12533692; 12649151; 12792306; 1449176; 15064761; 15496418; 15555549; 15613099; 15667538; 16162639; 16630581; 16969870; 17146397; 18059020; 1860190; 18794854; 18794856; 1912569; 19450438; 1967836; 20485438; 20944748; 21501827; 24436421; 5011389; 8280620; 9390828

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert