MYH11

myosin heavy chain 11
OMIM: 160745, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green MYH11 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Amber MYH11 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS Expert Review Amber Literature Phenotypes moyamoya-like angiopath Aortic aneurysm, familial thoracic 4, OMIM:132900
No list MYH11 in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.23	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive Dominant smooth muscle dysmotility syndrome
Red MYH11 in Pneumothorax - familial Level 3: Structural lung disorders Level 2: Respiratory disorders Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources NHS GMS
Red MYH11 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome
Green MYH11 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	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 4, 132900 Aortic aneurysm, familial thoracic 4 (132900)
Green MYH11 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	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 UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Aortic aneurysm, familial thoracic 4, 132900 Aortic aneurysm, familial thoracic 4 (132900)
Red MYH11 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.176 Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome
Red MYH11 in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome
Red MYH11 in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Phenotypes Aortic aneurysm, familial thoracic 4, 132900
Green MYH11 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Red MYH11 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome
Green MYH11 in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351 Visceral myopathy 2, OMIM:619350