Neurological ciliopathiesGene: ARL3
4 individuals from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Expert list
Created: 25 May 2020, 2:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome 35 MIM#61816
Variants in this GENE are reported as part of current diagnostic practice
gene: ARL3 was added gene: ARL3 was added to Neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812; 16565502 Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#61816 Review for gene: ARL3 was set to GREEN gene: ARL3 was marked as current diagnostic