Human Gene Module / Chromosome 22 / TNRC6B

TNRC6BTrinucleotide repeat containing 6B

Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 5
Rare Variants / Common Variants
4 / 0
Aliases
TNRC6B, RP5-1042K10.7
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
22q13.1
Associated Disorders
-
Relevance to Autism

Two de novo loss-of-function variants in the TNRC6B gene have been identified in ASD probands from the Simons Simplex Collection (refs).

Molecular Function

Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins.

Reports related to TNRC6B (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Dong S , et al. (2014) Yes -
2 Recent recommendation The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
3 Recent recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
4 Support Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Lelieveld SH , et al. (2016) No -
5 Support Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Stessman HA , et al. (2017) Yes -
Rare Variants   (4)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1352_1355del p.Lys451fs frameshift_variant De novo - Simplex 25284784 Dong S , et al. (2014)
c.2479C>T p.Gln827Ter stop_gained De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.3343C>T p.Arg1115Ter stop_gained De novo - - 27479843 Lelieveld SH , et al. (2016)
c.749_755delGGGGGGAinsGGGGGGGA p.Glu252GlyfsTer3 frameshift_variant De novo - - 28191889 Stessman HA , et al. (2017)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

Two de novo LoF variants in the TNRC6B gene (one frameshift, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). A third de novo LoF variant was identified in an ASD proband from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.

2

Strong Candidate

See all Category 2 Genes

We 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.

04-01-2017
2

Initial score established: 2

Description

Two de novo LoF variants in the TNRC6B gene (one frameshift, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). A third de novo LoF variant was identified in an ASD proband from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.

CNVs associated with TNRC6B(1 CNVs)
22q13.1 21 Deletion-Duplication 34  /  90
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