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  2. Ataxia - paediatric
  3. CCDC28B
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Ataxia - paediatric

Gene: CCDC28B

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

3 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

Mode of pathogenicity
Other

Created: 4 May 2020, 5:36 a.m.
Last Modified: 4 May 2020, 5:36 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.78

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Modifier of BBS
Sources: Expert list
Created: 16 Jan 2020, 5:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 16 Jan 2020, 5:19 a.m.

Panel version: 0.22

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, 12:48 a.m. | Last Modified: 28 Dec 2019, 12:48 a.m.
Panel Version: 0.441

Mode of inheritance
Other

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

Created: 28 Dec 2019, 12:48 a.m.
Last Modified: 28 Dec 2019, 12:48 a.m.
Panel version: Imported from Mendeliome panel version 0.441

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
OMIM
610162
Clinvar variants
Variants in CCDC28B
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc28b has been classified as Red List (Low Evidence).

17 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCDC28B was changed from BIALLELIC, autosomal or pseudoautosomal to Other

16 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CCDC28B was added gene: CCDC28B was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900 Review for gene: CCDC28B was set to RED