TNRC6B
Homo sapiens
Gene Name: Trinucleotide repeat containing 6B
Aliases: RP5-1042K10.7
Chromosome No: 22
Chromosome Band: 22q13.1
Genetic Category: Rare single gene variant--Syndromic-Rare single gene variant/Functional
Aliases: RP5-1042K10.7
Chromosome No: 22
Chromosome Band: 22q13.1
Genetic Category: Rare single gene variant--Syndromic-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 22
Recent Reports: 3
Annotated variants: 63
Associated CNVs: 6
Evidence score: 4
ASD Reports: 22
Recent Reports: 3
Annotated variants: 63
Associated CNVs: 6
Evidence score: 4
| 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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Exome-wide screening identifies novel rare risk variants for major depression disorder
MDD
Support
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
ASD, DD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
DD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality
Global developmental delay with speech and behavio
ADHD, ID
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD
Epilepsy/seizures
Support
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Developmental language disorder
Support
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye
ASD
Recent Recommendation
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
DD, ID
ASD, ADHD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN653R001
frameshift_variant
c.1352_1355del
p.Lys451ArgfsTer51
De novo
Simplex
GEN653R014
frameshift_variant
c.3148_3151del
p.Asn1050SerfsTer8
De novo
Unknown
GEN653R022
stop_gained
c.3943C>T
p.Arg1315Ter
Unknown
Not maternal
Simplex
GEN653R023
frameshift_variant
c.830_836del
p.Asn277MetfsTer3
De novo
Simplex
GEN653R049a
missense_variant
c.2138G>C
p.Arg713Pro
Familial
Both parents
Multiplex
GEN653R057
frameshift_variant
c.830_836del
p.Asn277MetfsTer3
De novo
Simplex
Common
No Common Variants Available
