ELOVL2ELOVL fatty acid elongase 2
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
1 / 4Aliases
ELOVL2, SSC2Associated Syndromes
-Chromosome Band
6p24.2Associated Disorders
-Relevance to Autism
Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.
Molecular Function
The protein encoded by the ELOVL2 gene catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle.
External Links
SFARI Genomic Platforms
Reports related to ELOVL2 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children | Sun C , et al. (2018) | Yes | - |
2 | Support | - | Mona Abdi et al. (2023) | Yes | - |
Rare Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | Familial | Both parents | Simplex | 37805537 | Mona Abdi et al. (2023) |
Common Variants (4)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.3+2296C>T | - | intron_variant | - | - | - | 30180836 | Sun C , et al. (2018) | |
c.4-11112A>G | - | intron_variant | - | - | - | 30180836 | Sun C , et al. (2018) | |
c.4-15957C>T | - | intron_variant | - | - | - | 30180836 | Sun C , et al. (2018) | |
c.*1655C>T | - | 3_prime_UTR_variant | - | - | - | 30180836 | Sun C , et al. (2018) |
SFARI Gene score
Strong Candidate


Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.
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
Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.
Reports Added
[New Scoring Scheme]10/1/2018

Increased from to 4
Description
Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.
Krishnan Probability Score
Score 0.56760150221839
Ranking 1167/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.000198697181598
Ranking 12716/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.91586523606609
Ranking 8389/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.19100075870811
Ranking 15221/20870 scored genes
[Show Scoring Methodology]