Unexplained kidney failure in young people
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Expert Review Red
- Phenotypes
-
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- DDG2P
- Thoracic aortic aneurysm or dissection
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Pneumothorax - familial
- CAKUT
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Added New Source
Sarah Leigh (Genomics England Curator)MYH11 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Red
Created
Sarah Leigh (Genomics England Curator)MYH11 was created by sleigh