MYH11

myosin heavy chain 11
OMIM: 160745, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green MYH11 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 4, MIM#160745

Green MYH11 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 4, MIM# 132900

Green MYH11 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MYH11 in Incidentalome


Version 0.301

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Visceral myopathy 2, MIM# 619350
  • Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351
  • Aortic aneurysm, familial thoracic 4, MIM# 132900
Tags
  • cardiac

Green MYH11 in Additional findings_Adult


Level 2: Screening
Version 0.166

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Aortic aneurysm, familial thoracic 4, MIM# 132900

Green MYH11 in Gastrointestinal neuromuscular disease


Level 2: Gastroenterological disorders
Version 1.24

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Visceral myopathy 2, MIM# 619350
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351
    • Dominant smooth muscle dysmotility syndrome

    Red MYH11 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Aortic aneurysm, familial thoracic 4, MIM# 132900

    Amber MYH11 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Amber
    Phenotypes
    • Aortic aneurysm, familial thoracic 4, 132900
    • moyamoya-like angiopath

    Amber MYH11 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Aortic aneurysm, familial thoracic 4

    Green MYH11 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green MYH11 in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351)

    Amber MYH11 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Aortic aneurysm, familial thoracic 4, MIM#160745
    Tags
    • cardiac
    • treatable

    Green MYH11 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aortic aneurysm, familial thoracic 4, MIM# 132900