Neurological ciliopathiesGene: CBY1
Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ID as a feature of the phenotype. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Created: 21 Jan 2021, 9:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Variants in this GENE are reported as part of current diagnostic practice
gene: CBY1 was added gene: CBY1 was added to Neurological ciliopathies. Sources: Literature Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBY1 were set to 33131181; 25103236; 25220153 Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome Review for gene: CBY1 was set to GREEN gene: CBY1 was marked as current diagnostic