Non-CF bronchiectasis

Gene: RSPH4A

Red List (low evidence)

RSPH4A (radial spoke head 4 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000111834
EnsemblGeneIds (GRCh37): ENSG00000111834
OMIM: 612647, Gene2Phenotype
RSPH4A is in 10 panels

2 reviews

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.

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
  • 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
OMIM
612647
Clinvar variants
Variants in RSPH4A
Penetrance
Complete
Publications
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 Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RSPH4A was changed to Unknown

10 May 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RSPH4A were set to Bronchiectasis; 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

10 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for RSPH4A were set to PMID: 26073779

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 ()

RSPH4A was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory