MYLK

myosin light chain kinase
OMIM: 600922, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green MYLK in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	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 1.43	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 0.301	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 1.255	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 1.114	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