Unexplained young onset end-stage renal disease - additional genes
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
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 2, OMIM:619351
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- None
- 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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MYH11 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: MYH11
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: MYH11 was added gene: MYH11 was added to Unexplained young onset end-stage renal disease - additional genes. 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