Fetal anomalies
Gene: MYH11

MYH11 (myosin heavy chain 11)
EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous dominant negative MYH11 pathogenic variants have been associated with thoracic aortic aneurysm and dissection (with and without patent ductus arteriosus) while biallelic null alleles have been associated with megacystis microcolon intestinal hypoperistalsis syndrome. Recent report of two families with heterozygous protein‐elongating MYH11 variants affecting the SM2 isoforms of MYH11 as a cause for severe gastrointestinal dysmotility. The authors hypothesise that the mechanistic pathogenesis of this disease, dominant hypercontractile loss‐of‐function, is distinct from those implicated in other diseases involving MYH11 dysfunction.

Megacystis seen on prenatal ultrasound.

Familial thoracic aortic aneurysm and Visceral myopathy unlikely to present antenatally.
Created: 29 Nov 2021, 12:43 a.m. | Last Modified: 29 Nov 2021, 12:43 a.m.

Panel Version: 0.766

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351)

Publications

Mode of pathogenicity
Other

Created: 29 Nov 2021, 12:43 a.m.
Last Modified: 29 Nov 2021, 12:43 a.m.
Panel version: 0.766

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351)

OMIM

160745

Clinvar variants

Variants in MYH11

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene