MYLK

myosin light chain kinase
OMIM: 600922, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MYLK in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Red MYLK in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.37
Latest signed off version: v2.17 (3 Mar 2020)

review Not set
Sources
  • NHS GMS

Green MYLK in Thoracic aortic aneurysm and dissection


Version 1.7
Latest signed off version: v1.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 7 (613780)
  • Aortic aneurysm, familial thoracic 7, 613780

Green MYLK in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aortic aneurysm, familial thoracic 7, 613780
  • Aortic aneurysm, familial thoracic 7 (613780)

Amber MYLK in Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.57
Latest signed off version: v2.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Aortic aneurysm, familial thoracic 7, OMIM:613780

Amber MYLK in Fetal anomalies


Version 1.649
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
  • MMIH

Amber MYLK in DDG2P


Version 2.27
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome