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  3. RSPH3
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: RSPH3

Green List (high evidence)
RSPH3 (radial spoke head 3 homolog)
EnsemblGeneIds (GRCh38): ENSG00000130363
EnsemblGeneIds (GRCh37): ENSG00000130363
OMIM: 615876, Gene2Phenotype
RSPH3 is in 6 panels

4 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: RSPH3; 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

Caroline Wright (Genomics England Curator)

Comment on list classification: REF 26073779: We identified non-ambiguous RSPH3 mutations in 5 of 48 independent families affected by CC/RS defects.
Created: 10 May 2016, 9:53 a.m.
Created: 10 May 2016, 9:53 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0.26

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

See Jeanson et al. Am J Hum Genet. 2015 Jul 2;97(1):153-62.
Created: 8 Dec 2015, 5:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 32, 616481

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

Created: 8 Dec 2015, 5:33 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

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, 32

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 32, 616481
OMIM
615876
Clinvar variants
Variants in RSPH3
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 RSPH3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RSPH3. 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: RSPH3 was added gene: RSPH3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH3 was set to