MYH9

myosin heavy chain 9
OMIM: 160775, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red MYH9 in COVID-19 research


Level 2: Viral research
Version 1.130

review Unknown
Sources
  • Literature

Green MYH9 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epstein syndrome
  • Fechtner syndrome

Green MYH9 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.172

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • May-Hegglin and other MYH9 disorders

Red MYH9 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.106

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • May-Hegglin anomaly, 155100Fechtner syndrome, 153640Sebastian syndrome, 605249Deafness, autosomal dominant 17, 603622Epstein syndrome, 153650Macrothrombocytopenia and progressive sensorineural deafness, 600208

Green MYH9 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.113

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    Phenotypes
    • Epstein syndrome 153650
    • Fechtner syndrome 153640

    Green MYH9 in Bleeding and platelet disorders


    Version 1.43
    Latest signed off version: v1.2 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
    • 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

    Amber MYH9 in Cytopenia - NOT Fanconi anaemia


    Version 1.70
    Latest signed off version: v1.29 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert review Amber
    • North West GLH
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • London South GLH
    Phenotypes
    • Macrothrombocytopenia, 155100

    Green MYH9 in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Epstein syndrome 153650
    • Fechtner syndrome 153640

    Green MYH9 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SEBASTIAN SYNDROME
    • DEAFNESS AUTOSOMAL DOMINANT TYPE 17
    • EPSTEIN SYNDROME
    • FECHTNER SYNDROME
    • MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS
    • MAY-HEGGLIN ANOMALY

    Green MYH9 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622
    • SEBASTIAN SYNDROME 155100
    • MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100
    • EPSTEIN SYNDROME 155100
    • MAY-HEGGLIN ANOMALY 155100
    • FECHTNER SYNDROME 155100

    Green MYH9 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review 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

    Green MYH9 in Haematuria

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.11
    Latest signed off version: v2.4 (15 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100

    Red MYH9 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • May-Hegglin anomaly, 155100
    • Fechtner syndrome, 153640
    • Sebastian syndrome, 605249
    • Deafness, autosomal dominant 17, 603622
    • Epstein syndrome, 153650
    • Macrothrombocytopenia and progressive
    • sensorineural deafness, 600208

    Red MYH9 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • Epstein Syndrome, 153650
    • Fechtner syndrome, 153640

    Green MYH9 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.77
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Epstein syndrome #153650
    • Fechtner syndrome #153640

    Red MYH9 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Fechtner syndrome
    • Epstein syndrome
    • Nephropathy of unknown origin
    • 153640
    • MIM 153650

    Green MYH9 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100
    • Deafness, autosomal dominant 17, 603622