Rare multisystem ciliopathy disorders
Gene: RSPH4A

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Primary ciliary dyskinesia is not included in this panel
Created: 23 Jan 2017, 4:04 p.m.

Created: 23 Jan 2017, 4:04 p.m.

Panel version: 0.430

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted because this is green on the Primary ciliary disorders gene panel.
Created: 28 Nov 2016, 11:01 a.m.

Created: 28 Nov 2016, 11:01 a.m.

Panel version: 0.345

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Ciliary dyskinesia, primary, 11, 612649

OMIM

612647

Clinvar variants

Variants in RSPH4A

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 1