Interstitial Lung Disease
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

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 10 unrelated families reported.
Created: 5 Nov 2021, 7:36 a.m. | Last Modified: 5 Nov 2021, 7:36 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

PMID: 28939216
24824133

Created: 5 Nov 2021, 7:36 a.m.
Last Modified: 5 Nov 2021, 7:36 a.m.
Panel version: 0.183

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25789548; Frommer 2015: 8 PCD families reported, only 4 different variants identified. Functional studies performed.

PMID: 22448264; Ziętkiewicz 2012: 4 additional families/variants reported.
Created: 6 May 2020, 4:43 a.m. | Last Modified: 6 May 2020, 4:43 a.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 11 (MIM#612649)

Publications

Created: 6 May 2020, 4:43 a.m.
Last Modified: 6 May 2020, 4:43 a.m.
Panel version: Imported from Ciliary Dyskinesia panel version 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 11 (MIM#612649)

OMIM

612647

Clinvar variants

Variants in RSPH4A

Penetrance

None

Publications

Panels with this gene