Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants2 / 0
AliasesCORO1A, CLABP, CLIPINA, HCORO1, IMD8, TACO, p57
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Two de novo missense variants that were predicted to be probably damaging (defined as MPC 2) were identified in the CORO1A gene in ASD probands from the Autism Sequencing Consortium (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified CORO1A as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation.
Reports related to CORO1A (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.||Satterstrom FK , et al. (2020)||Yes||-|
Rare Variants (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.38A>C||p.His13Pro||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK , et al. (2020)|
|c.733C>G||p.Arg245Gly||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK , et al. (2020)|
No common variants reported.
CNVs associated with CORO1A(1 CNVs)
|16p11.2||113||Deletion-Duplication||177 / 1562|