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  3. RSPH4A
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: RSPH4A

Green List (high evidence)
RSPH4A (radial spoke head 4 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000111834
EnsemblGeneIds (GRCh37): ENSG00000111834
OMIM: 612647, Gene2Phenotype
RSPH4A 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: RSPH4A; 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, 11, 612649

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 mode of inheritance: OMIM and the gene on the primary ciliary dyskinesia panel suggests a biallelic mode of inheritance.
Created: 10 May 2016, 9:59 a.m.
Comment on list classification: Is a primary ciliary dyskinesia gene (a green gene on the primary ciliary dyskinesia gene panel) and for this panel as a group we decided to not include genes that were also on the primary ciliary dyskinesia gene panel. Should remain red.
Created: 10 May 2016, 9:55 a.m.
Created: 10 May 2016, 9:55 a.m.

Panel version: Imported from Non-CF bronchiectasis panel version 0.30

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Reviewed with team while reviewing non-CF Bronchiectasis
Created: 10 May 2016, 8:42 a.m.
Created: 10 May 2016, 8:42 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, 11

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)

Important to exclude known PCD mutations in those with suspected idiopathic bronchiectasis
Created: 17 Oct 2015, 7:20 p.m.
Important to include in nonCF bronchiectasis panel given unsuspected PCD may be a cause of otherwise "idiopathic bronchiectasis"
Created: 17 Oct 2015, 7:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Reduced exercise tolerance; chronic wet cough; recurrent respiratory infections; nasal symptoms; rhinorrhea; rhinitis; nasal blockage; sinusitis; glue ear; otitis media; hearing problems; deafness; Bronchiectasis; low weight; short stature

Publications

Created: 17 Oct 2015, 7:16 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
  • sinusitis
  • chronic wet cough
  • nasal symptoms
  • rhinorrhea
  • recurrent respiratory infections
  • Primary Ciliary Dyskinesia
  • rhinitis
  • Reduced exercise tolerance
  • otitis media
  • nasal blockage
  • Bronchiectasis
  • short stature
  • deafness
  • glue ear
  • low weight
  • hearing problems
  • Ciliary dyskinesia, primary, 11, 612649
OMIM
612647
Clinvar variants
Variants in RSPH4A
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 RSPH4A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes sinusitis; chronic wet cough; nasal symptoms; rhinorrhea; recurrent respiratory infections; Primary Ciliary Dyskinesia; rhinitis; Reduced exercise tolerance; otitis media; nasal blockage; Bronchiectasis; short stature; deafness; glue ear; low weight; hearing problems; Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RSPH4A. 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: RSPH4A was added gene: RSPH4A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH4A was set to