Ciliary Dyskinesia
Gene: RSPH3

RSPH3 (radial spoke head 3 homolog)
EnsemblGeneIds (GRCh38): ENSG00000130363
EnsemblGeneIds (GRCh37): ENSG00000130363
OMIM: 615876, Gene2Phenotype
RSPH3 is in 4 panels

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26073779; Jeanson 2015: Reported 5 unrelated PCD families. Analysis of cilia showed near absence of detectable radial spokes.

Multiple individuals in ClinVar with Ciliary dyskinesia, primary, 32
Created: 26 Apr 2022, 2:17 a.m. | Last Modified: 26 Apr 2022, 2:17 a.m.

Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 32 MIM#616481

Publications

26073779

Created: 26 Apr 2022, 2:17 a.m.
Last Modified: 26 Apr 2022, 2:17 a.m.
Panel version: 1.16

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26073779; Jeanson 2015: Reported 4 unrelated PCD families. Analysis of cilia showed near absence of detectable radial spokes.
Created: 6 May 2020, 6:31 a.m. | Last Modified: 6 May 2020, 6:31 a.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 32 (MIM#616481)

Publications

26073779

Created: 6 May 2020, 6:31 a.m.
Last Modified: 6 May 2020, 6:31 a.m.
Panel version: 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 32 (MIM#616481)

OMIM

615876

Clinvar variants

Variants in RSPH3

Penetrance

None

Publications

26073779

Panels with this gene