Neurological ciliopathiesGene: CCDC28B
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
Created: 21 May 2020, 4:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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