ARL13B was first reported in relation to autosomal recessive Joubert syndrome in 2008 (Cantagrel et al., 18674751). At least 11 unique variants (missense, nonsense) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in at least 8 probands in 5 publications (PMIDs: 18674751, 26092869, 25138100, 27894351, 29255182). Variants in this gene segregated with disease in 4 additional family members. The mechanism for disease is homozygous loss of function. This gene-disease association is supported by animal models, rescue experiments, expression studies, and in vitro functional assays. In summary, ARL13B is definitively associated with autosomal recessive Joubert syndrome. This classification was approved by the ClinGen Syndromic Disorders GCEP on 6.3.2020 (SOP Version 7).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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