Primary ciliary disorders
Gene: RSPH4A

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

3 reviews

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: 0

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: 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

PMID:19200523

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2015, 4:25 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Primary Ciliary Dyskinesia
Ciliary dyskinesia, primary, 11, 612649

OMIM

612647

Clinvar variants

Variants in RSPH4A

Penetrance

Complete

Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Jul 2015, Gel status: 4