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  2. Joubert syndrome and other neurological ciliopathies
  3. CCDC28B
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Joubert syndrome and other neurological ciliopathies

Gene: CCDC28B

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

1 review

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.
Sources: Expert list
Created: 4 May 2020, 10:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

Created: 4 May 2020, 10:58 a.m.

Panel version: 0.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome
OMIM
610162
Clinvar variants
Variants in CCDC28B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc28b has been classified as Amber List (Moderate Evidence).

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc28b has been classified as Amber List (Moderate Evidence).

4 May 2020, 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 Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 32139166 Phenotypes for gene: CCDC28B were set to Joubert syndrome Review for gene: CCDC28B was set to AMBER