Ciliary Dyskinesia
Gene: C21orf59

C21orf59 (chromosome 21 open reading frame 59)
EnsemblGeneIds (GRCh38): ENSG00000159079
EnsemblGeneIds (GRCh37): ENSG00000159079
OMIM: 615494, Gene2Phenotype
C21orf59 is in 4 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 24094744 - 4 unrelated families with bilallelic PTCs p.Tyr245* was recurring within the Ashkenazi Jewish population, authors speculate it is a founder mutation.
zebrafish knockouts demonstrated impaired cilia beating patterns, and loss of inner and outer dynein arm components. Injection of wildtype human mRNA rescued motility defects.

PMID: 26904945 - Additional animal models demonstration protein accumulation in the base of cilia and dynein arm defects

Updated to include findings of animal models
Created: 4 May 2020, 5:28 a.m. | Last Modified: 4 May 2020, 5:28 a.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 26 615500

Publications

PMID: 24094744
26904945

Created: 4 May 2020, 5:28 a.m.
Last Modified: 4 May 2020, 5:28 a.m.
Panel version: 0.40

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported. HGNC approved name CFAP298.
Created: 3 May 2020, 3:52 a.m. | Last Modified: 3 May 2020, 3:53 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 26, MIM# 615500

Publications

24094744

Created: 3 May 2020, 3:52 a.m.
Last Modified: 3 May 2020, 3:53 a.m.
Panel version: 0.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 26, MIM# 615500

Tags

founder new gene name

OMIM

615494

Clinvar variants

Variants in C21orf59

Penetrance

None

Publications

Panels with this gene