Non-CF bronchiectasis
Gene: RSPH9
RSPH9 (radial spoke head 9 homolog)
EnsemblGeneIds (GRCh38): ENSG00000172426
EnsemblGeneIds (GRCh37): ENSG00000172426
OMIM: 612648, Gene2Phenotype
RSPH9 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000172426
EnsemblGeneIds (GRCh37): ENSG00000172426
OMIM: 612648, Gene2Phenotype
RSPH9 is in 10 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Again this is a gene associated with primary ciliary dyskinesia, and we decided as a group internally to keep this panel seperate from the primary ciliary dyskinesia gene panel.Created: 10 May 2016, 10:09 a.m.
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
Included in PCD panel- will need included in Non CF bronchiectasis when unsuspected PCD is cause of bronchiectasisCreated: 17 Oct 2015, 7:13 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Bronchiectasis
- OMIM
- 612648
- Clinvar variants
- Variants in RSPH9
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RSPH9 were set to
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()RSPH9 was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory