MYLK

myosin light chain kinase
OMIM: 600922, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red MYLK in Pneumothorax - familial Level 2: Respiratory Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources NHS GMS
Green MYLK in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	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, OMIM:613780
Green MYLK in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	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, OMIM:613780
Amber MYLK in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Green MYLK in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Green MYLK in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210