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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. RSPH9
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: RSPH9

Green List (high evidence)
RSPH9 (radial spoke head 9 homolog)
EnsemblGeneIds (GRCh38): ENSG00000172426
EnsemblGeneIds (GRCh37): ENSG00000172426
OMIM: 612648, Gene2Phenotype
RSPH9 is in 10 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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: RSPH9; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 12, 612650

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0

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.
Created: 10 May 2016, 10:09 a.m.

Panel version: Imported from Non-CF bronchiectasis panel version 0.34

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Reviewed with team while reviewing non-CF Bronchiectasis
Created: 10 May 2016, 8:43 a.m.
Created: 10 May 2016, 8:43 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0.2

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

UK mutations reported
Created: 8 Dec 2015, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 12

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2015, 4:25 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

Green List (high evidence)

Included in PCD panel- will need included in Non CF bronchiectasis when unsuspected PCD is cause of bronchiectasis
Created: 17 Oct 2015, 7:13 p.m.
Created: 17 Oct 2015, 7:13 p.m.

Panel version: Imported from Non-CF bronchiectasis panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 12, 612650
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
OMIM
612648
Clinvar variants
Variants in RSPH9
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene RSPH9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RSPH9. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RSPH9 was added gene: RSPH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH9 was set to