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| Neurological ciliopathies v3.10 | CCDC28B |
Sarah Leigh changed review comment from: Not associated with a Joubert syndrome phenotype in OMIM, Gen2Phen or MONDO. PMID: 32139166 reports one homozygous CCDC28B variant (rs1407134) in a child with features of Joubert syndrome - polydactyly, severe intellectual disability and molar tooth sign in brain imaging. The fetal sibbling of this child (terminated) was also homozygous for this variant. The allele frequency of rs1407134 (gnomAD Exomes (V 2.1.1) ƒ = 0.0326) makes it unlikely to be disease causing. PMID: 23727834 demonstrates that CCDC28B is involved in the control of cilial length.; to: Not associated with a Joubert syndrome phenotype in OMIM, Gen2Phen or MONDO. PMID: 32139166 reports one homozygous CCDC28B variant (rs1407134) in a child with features of Joubert syndrome - polydactyly, severe intellectual disability and molar tooth sign in brain imaging. The fetal sibbling of this child (terminated) was also homozygous for this variant. The allele frequency of rs1407134 (gnomAD Exomes (V 2.1.1) ƒ = 0.0326) makes it unlikely to be disease causing, plus, it is classified as Benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1271446/). PMID: 23727834 demonstrates that CCDC28B is involved in the control of cilial length. |
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| Neurological ciliopathies v3.10 | CCDC28B | Sarah Leigh reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.10 | CCDC28B | Sarah Leigh Publications for gene: CCDC28B were set to 32139166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.9 | CCDC28B | Sarah Leigh Classified gene: CCDC28B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.9 | CCDC28B | Sarah Leigh Gene: ccdc28b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.8 | CCDC28B | Sarah Leigh Phenotypes for gene: CCDC28B were changed from Joubert syndrome to Joubert syndrome, MONDO:0018772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.7 | CCDC28B | Sarah Leigh Classified gene: CCDC28B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.7 | CCDC28B | Sarah Leigh Gene: ccdc28b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.7 | CCDC28B |
Zornitza Stark gene: CCDC28B was added gene: CCDC28B was added to 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 Added comment: Note new publication relating to this gene, which has previously been postulated to be a modifier for 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. Borderline Amber/Red but note knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia, providing some supportive evidence. Sources: Expert list |
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