Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Primary Ciliary Dyskinesia 11 is one of at least 50 different primary ciliary dyskinesias. Classic features of the disorder include neonatal respiratory distress, otitis media, sinusitis, and bronchiectasis, as well as decreased nasal nitric oxide. Ciliary motility is abnormal, characterized by a stiff ciliary appearance and beating, in some cases with a rotatory rather than planar pattern.

HGNC approved symbol/name:
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: Common founder mutation (PMID: 23798057) in 9 patients all of whom had Puerto Rican ancestry.
Created: 3 Mar 2025, 5:44 a.m. | Last Modified: 3 Mar 2025, 5:44 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 11, MIM# 612649

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 11, 612649 (3)
OMIM
612647
Clinvar variants
Variants in RSPH4A
Penetrance
None
Panels with this gene

History Filter Activity

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: RSPH4A was added gene: RSPH4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)