MYH11

myosin heavy chain 11
OMIM: 160745, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green MYH11 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 4, MIM#160745
Green MYH11 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 4, MIM# 132900
Green MYH11 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MYH11 in Incidentalome Version 1.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Visceral myopathy 2, MIM# 619350 Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351 Aortic aneurysm, familial thoracic 4, MIM# 132900 Tags cardiac
Green MYH11 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Aortic aneurysm, familial thoracic 4, MIM# 132900
Green MYH11 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Visceral myopathy 2, MIM# 619350 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351 Dominant smooth muscle dysmotility syndrome
Red MYH11 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Aortic aneurysm, familial thoracic 4, MIM# 132900
Red MYH11 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Aortic aneurysm, familial thoracic 4, 132900 moyamoya-like angiopath
Amber MYH11 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 4
Green MYH11 in Incidentalome_PREGEN_DRAFT Version 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green MYH11 in Fetal anomalies Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351)
Amber MYH11 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 4, MIM#160745 Tags treatable cardiac
Green MYH11 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 4, MIM# 132900