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  3. CCDC28B
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Skeletal dysplasia

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: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.22

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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. 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.
Created: 4 May 2020, 10:59 a.m. | Last Modified: 4 May 2020, 10:59 a.m.
Panel Version: 0.2729
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; Joubert syndrome

Publications

Created: 28 Dec 2019, 12:48 a.m.
Last Modified: 28 Dec 2019, 12:48 a.m.
Panel version: Imported from Mendeliome panel version 0.2729

Details

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

History Filter Activity

17 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC28B was added gene: CCDC28B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 23015189 Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900