Ciliary Dyskinesia
Gene: CCDC65

CCDC65 (coiled-coil domain containing 65)
EnsemblGeneIds (GRCh38): ENSG00000139537
EnsemblGeneIds (GRCh37): ENSG00000139537
OMIM: 611088, Gene2Phenotype
CCDC65 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three other variants reported as pathogenic in ClinVar by diagnostic laboratories. Encodes protein with a known ciliary function, supportive animal model, overall sufficient to maintain Green rating.
Created: 3 May 2020, 10:38 p.m. | Last Modified: 3 May 2020, 10:38 p.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 27, MIM# 615504

Created: 3 May 2020, 10:38 p.m.
Last Modified: 3 May 2020, 10:38 p.m.
Panel version: 0.39

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Loss of function - PMID: 23991085, PMID: 24094744 reported the same homozygous PTC (p.I293Pfs*2) seen in 3 Ashkenzi Jew families.

PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF.

No other publications on this gene available.

Dont feel theres enough reports here to confidently make the gene green due to the founder variant - please let me know otherwise
Created: 3 May 2020, 10:14 p.m. | Last Modified: 3 May 2020, 10:14 p.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 27 615504

Publications

PMID: 23991085
24094744

Created: 3 May 2020, 10:14 p.m.
Last Modified: 3 May 2020, 10:14 p.m.
Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 27, MIM# 615504

Tags

founder

OMIM

611088

Clinvar variants

Variants in CCDC65

Penetrance

None

Publications

Panels with this gene