Renal and urinary tract disorders
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
2 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Mode of inheritance provided by expert review.Created: 30 Mar 2016, 12:50 p.m.
Comment on list classification: Gene added during expert review.Created: 30 Mar 2016, 12:49 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Paediatric disorders - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Thoracic aortic aneurysm or dissection
- Unexplained young onset end-stage renal disease - additional genes
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: MYH11
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MYH11 was added gene: MYH11 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome