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Prepair 1000+

Gene: RSPH1

Green List (high evidence)
RSPH1 (radial spoke head 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000160188
EnsemblGeneIds (GRCh37): ENSG00000160188
OMIM: 609314, Gene2Phenotype
RSPH1 is in 7 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder that is associated with low levels of nasal nitric oxide and chronic otosinopulmonary disease. Pathogenic mutations in 28 genes can cause PCD, which accounts for
approximately 70% of individuals affected with PCD (PMID: 24568568).

Patients with PCD with mutations in RSPH1 have milder respiratory disease and higher levels of nasal nitric oxide than seen in other “classic” forms of PCD. Gene has been reported in PCD families without situs invertus (PMID: 24568568).

Individuals with RSPH1 mutations had a lower incidence of neonatal respiratory distress (PMID: 24568568).

Considering neonatal respiratory distress may be present (even though rarer), I believe gene is still relevant for carrier screening.
Created: 20 Jan 2025, 6:46 a.m. | Last Modified: 20 Jan 2025, 6:46 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 24 MIM#615481

Publications

Created: 20 Jan 2025, 6:46 a.m.
Last Modified: 20 Jan 2025, 6:46 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 24 MIM#615481
OMIM
609314
Clinvar variants
Variants in RSPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsph1 has been classified as Green List (High Evidence).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RSPH1 were changed from Ciliary dyskinesia, primary, 24, 615481 (3) to Ciliary dyskinesia, primary, 24 MIM#615481

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RSPH1 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RSPH1 was added gene: RSPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)