MYLK

myosin light chain kinase
OMIM: 600922, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MYLK in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	2 reviews	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 2.0	1 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 1.0	2 reviews	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 2.0	1 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 1.0	0 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210
Amber MYLK in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Aortic aneurysm, familial thoracic 7, MIM#613780
Green MYLK in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	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 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Aortic aneurysm, familial thoracic 7 MIM#613780