Ciliopathies
Gene: CCDC28B

CCDC28B (coiled-coil domain containing 28B)
EnsemblGeneIds (GRCh38): ENSG00000160050
EnsemblGeneIds (GRCh37): ENSG00000160050
OMIM: 610162, Gene2Phenotype
CCDC28B is in 7 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

OMIM: knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia

430C-T variant is postulated to be a modifier of BBS.

PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers.
Created: 4 May 2020, 5:36 a.m. | Last Modified: 4 May 2020, 5:36 a.m.

Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Bardet-Biedl syndrome 1, modifier of} 209900; Joubert syndrome

Publications

PMID: 32139166

Mode of pathogenicity
Other

Created: 4 May 2020, 5:36 a.m.
Last Modified: 4 May 2020, 5:36 a.m.
Panel version: 0.78

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

430C-T variant is postulated to be a modifier of BBS.
Created: 28 Dec 2019, 12:46 a.m. | Last Modified: 28 Dec 2019, 12:46 a.m.

Panel Version: 0.11

Mode of inheritance
Other

Phenotypes
{Bardet-Biedl syndrome 1, modifier of}, MIM#209900

Created: 28 Dec 2019, 12:46 a.m.
Last Modified: 28 Dec 2019, 12:46 a.m.
Panel version: 0.11

Details

Mode of Inheritance

Other

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

{Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Joubert syndrome

OMIM

610162

Clinvar variants

Variants in CCDC28B

Penetrance

None

Publications

32139166

Panels with this gene