BICDL1BICD family like cargo adaptor 1
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
0 / 2Aliases
BICDL1, BICDR-1, BICDR1, CCDC64, CCDC64A, H_267D11.1Associated Syndromes
-Chromosome Band
12q24.23Associated Disorders
-Relevance to Autism
Genetic association has been found between the BICDL1 gene (formerly known as the CCDC64 gene) and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
This protein is a component of the secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth.
External Links
SFARI Genomic Platforms
Reports related to BICDL1 (2 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Common genetic variants on 5p14.1 associate with autism spectrum disorders | Wang K , et al. (2009) | Yes | - |
| 2 | Positive Association | A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale | Connolly JJ , et al. (2012) | Yes | - |
Rare Variants
No rare variants reported.
Common Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | - | intergenic_variant | - | - | - | 22935194 | Connolly JJ , et al. (2012) |
SFARI Gene score
Strong Candidate
Nearby flanking gene with suggestive association in two large GWAS studies (Wang et al., 2009).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
Nearby flanking gene with suggestive association in two large GWAS studies (Wang et al., 2009).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
Nearby flanking gene with suggestive association in two large GWAS studies (Wang et al., 2009).
Reports Added
[New Scoring Scheme]7/1/2018
Increased from to 4
Description
Nearby flanking gene with suggestive association in two large GWAS studies (Wang et al., 2009).