KLHL20kelch like family member 20
Autism Reports / Total Reports
2 / 4Rare Variants / Common Variants
6 / 0Aliases
-Associated Syndromes
-Chromosome Band
1q25.1Associated Disorders
-Relevance to Autism
A de novo missense variant in the KLHL20 gene was identified in an ASD proband from the Autism Sequencing Consortium in Satterstrom et al., 2020. Sleyp et al., 2022 described 14 patients with de novo missense variants in the KLHL20 gene presenting with a neurodevelopmental syndrome characterized by intellectual disability, febrile seizures or epilepsy, autism spectrum disorder or autistic features, hyperactivity, and subtle dysmorphic facial features; a recurrent de novo missense variant (NM_014458.4:c.1069G>A;p.Gly357Arg) was observed in 11 patients.
Molecular Function
The protein encoded by this gene is a substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (Lee et al., 2010). The BCR(KLHL20) E3 ubiquitin ligase complex also acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (Lin et al., 2011).
External Links
SFARI Genomic Platforms
Reports related to KLHL20 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | - | Lee YR , et al. (2010) | No | - |
2 | Support | - | Lin MY et al. (2011) | No | - |
3 | Primary | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
4 | Recent Recommendation | - | Sleyp Y et al. (2022) | Yes | ADHD, stereotypy |
Rare Variants (6)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.1069G>A | p.Gly357Arg | missense_variant | De novo | - | - | 36214804 | Sleyp Y et al. (2022) | |
c.1069G>A | p.Gly357Arg | missense_variant | Unknown | - | - | 36214804 | Sleyp Y et al. (2022) | |
c.1214G>A | p.Ser405Asn | missense_variant | De novo | - | - | 36214804 | Sleyp Y et al. (2022) | |
c.1262A>G | p.Gln421Arg | missense_variant | De novo | - | - | 36214804 | Sleyp Y et al. (2022) | |
c.1777G>T | p.Gly593Trp | missense_variant | De novo | - | - | 36214804 | Sleyp Y et al. (2022) | |
c.1214G>A | p.Ser405Asn | missense_variant | De novo | - | - | 31981491 | Satterstrom FK et al. (2020) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence


Score Delta: Score remained at 1
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.
1/1/2023

Increased from to 1
Krishnan Probability Score
Score 0.45050682594323
Ranking 10865/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.06167708222994
Ranking 8342/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94062517080805
Ranking 14635/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.075243955436635
Ranking 11381/20870 scored genes
[Show Scoring Methodology]