TNRC6B Chromosome 22

Trinucleotide repeat containing adaptor 6B
46 variants 46 Health Risk

Upload your DNA to see your personal genotypes for variants in TNRC6B.

What This Gene Does
Enables RNA binding activity. Involved in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; and regulatory ncRNA-mediated gene silencing. Acts upstream of with a positive effect on miRNA-mediated gene silencing by inhibition of translation. Predicted to be located in cytosol. Predicted to be active in P-body and nucleoplasm. Implicated in subserous uterine fibroid and uterine fibroid. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Armadillo like helical domain containing|TNRC6 adaptor family"
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100354
Associated Conditions (6)
Autism spectrum disorder
Global developmental delay with speech and behavioral abnormalities
Inborn genetic diseases
Neurodevelopmental delay
TNRC6B-related disorder
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Key Variants
RS146996627
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS201057205
Conflicting classifications of pathogenicity
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2070541197
Conflicting classifications of pathogenicity
Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2146512032
Conflicting classifications of pathogenicity
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2518045920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases
Health Risk
RS73165082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765989873
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2071205689
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2146500943
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2517984979
Likely pathogenic
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2517986713
Likely pathogenic
TNRC6B-related disorder, TNRC6B-related disorder
Health Risk
RS2517986860
Likely pathogenic
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
All Variants (46)
RSID Category Clinical Significance Conditions
RS146996627 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS201057205 Health Risk Conflicting classifications of pathogenicity Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2070541197 Health Risk Conflicting classifications of pathogenicity Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities
RS2146512032 Health Risk Conflicting classifications of pathogenicity Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518045920 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases
RS73165082 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765989873 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2071205689 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2146500943 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2517984979 Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2517986713 Health Risk Likely pathogenic TNRC6B-related disorder, TNRC6B-related disorder
RS2517986860 Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2517996716 Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518004225 Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518029376 Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518046138 Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518047038 Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS1355280060 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201621003 Health Risk Pathogenic
RS2070466353 Health Risk Pathogenic
RS2071009325 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2146471012 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146499114 Health Risk Pathogenic
RS2146500403 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146500556 Health Risk Pathogenic
RS2146501061 Health Risk Pathogenic
RS2146518792 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146548512 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146565741 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146569465 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146570387 Health Risk Pathogenic
RS2517980289 Health Risk Pathogenic
RS2517985090 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2517986894 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Global developmental delay with speech and behavioral abnormalities, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2517987250 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517988934 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2518000703 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518004353 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518042768 Health Risk Pathogenic
RS376009962 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS750268759 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS758228613 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS774374347 Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS1191287768 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases
RS200598254 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Inborn genetic diseases, Neurodevelopmental delay
RS763492540 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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