MYLK

myosin light chain kinase
OMIM: 600922, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green MYLK in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 7, MIM#613780

Green MYLK in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 7, MIM# 613780

Green MYLK in Incidentalome


Version 0.314

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 7, MIM#613780
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210
Tags
  • cardiac

Amber MYLK in Gastrointestinal neuromuscular disease


Level 2: Gastroenterological disorders
Version 1.24

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210

    Amber MYLK 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 7

    Amber MYLK in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210

    Amber MYLK in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category B gene
    • Expert Review Amber
    Phenotypes
    • Aortic aneurysm, familial thoracic 7

    Green MYLK 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 7, MIM# 613780

    Amber MYLK in Spontaneous coronary artery dissection


    Level 2: Cardiovascular disorders
    Version 0.56

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Aortic aneurysm, familial thoracic 7 MIM#613780