Pneumothorax - familial
Gene: MYH11
MYH11 (myosin heavy chain 11)
EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: MYH11; Suggested initial gene rating: Amber; Evidence for inclusion: FTAA gene; Evidence for exclusion: Pneumothorax appears to be a rare/unassociated feature.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 2:37 p.m.
Details
- Sources
-
- NHS GMS
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Pneumothorax - familial
- Paediatric disorders - additional genes
- CAKUT
- 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
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
History Filter Activity
6 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MYH11 was added gene: MYH11 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: MYH11 was set to