TERB2telomere repeat binding bouquet formation protein 2
Autism Reports / Total Reports
1 / 1Rare Variants / Common Variants
1 / 0Aliases
TERB2, C15orf43Associated Syndromes
-Chromosome Band
15q21.1Associated Disorders
-Relevance to Autism
Rare variants in the TERB2 gene (formerly known as the C15orf43 gene) have been identified with autism (Pinto et al., 2010).
Molecular Function
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis.
External Links
SFARI Genomic Platforms
Reports related to TERB2 (1 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Functional impact of global rare copy number variation in autism spectrum disorders | Pinto D , et al. (2010) | Yes | - |
Rare Variants (1)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_gain | - | - | - | 20531469 | Pinto D , et al. (2010) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A deletion in this gene was identified in 1 / 996 autistic cases vs. 0 / 1287 controls (PMID 20531469). In addition, three inherited single gene exonic deletions were found in three separate individuals together with numerous upstream duplicatons (PMID 21658581).
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
A deletion in this gene was identified in 1 / 996 autistic cases vs. 0 / 1287 controls (PMID 20531469). In addition, three inherited single gene exonic deletions were found in three separate individuals together with numerous upstream duplicatons (PMID 21658581).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A deletion in this gene was identified in 1 / 996 autistic cases vs. 0 / 1287 controls (PMID 20531469). In addition, three inherited single gene exonic deletions were found in three separate individuals together with numerous upstream duplicatons (PMID 21658581).
Reports Added
[New Scoring Scheme]7/1/2018
Increased from to 4
Description
A deletion in this gene was identified in 1 / 996 autistic cases vs. 0 / 1287 controls (PMID 20531469). In addition, three inherited single gene exonic deletions were found in three separate individuals together with numerous upstream duplicatons (PMID 21658581).