Human Gene Module / Chromosome 2 / TET3

TET3tet methylcytosine dioxygenase 3

Score
S
Syndromic Syndromic
Autism Reports / Total Reports
0 / 2
Rare Variants / Common Variants
10 / 0
Aliases
TET3, hCG_40738
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
2p13.1
Associated Disorders
ASD
Relevance to Autism

Beck et al., 2020 identified and characterized 11 cases of human TET3 deficiency in eight families presenting with common phenotypic features including intellectual disability and/or global developmental delay (11/11), hypotonia (8/11), ASD or autistic features including difficulty with social interactions (6/11), movements disorders (5/11), growth abnormalities (8/11), and facial dysmorphism; included in this cohort was a family with three affected children previously described in Santos-Cortez et al., 2018.

Molecular Function

Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process.

Reports related to TET3 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Santos-Cortez RLP , et al. (2018) No -
2 Primary Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Beck DB , et al. (2020) No ASD or autistic features
Rare Variants   (10)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.5083C>T p.Gln1695Ter stop_gained De novo NA - 31928709 Beck DB , et al. (2020)
c.2552C>T p.Thr851Met missense_variant De novo NA - 31928709 Beck DB , et al. (2020)
c.5030C>T p.Pro1677Leu missense_variant De novo NA - 31928709 Beck DB , et al. (2020)
c.2254C>T p.Arg752Cys missense_variant Familial Paternal - 31928709 Beck DB , et al. (2020)
c.3215T>G p.Phe1072Cys missense_variant Familial Paternal - 31928709 Beck DB , et al. (2020)
c.3226G>A p.Ala1076Thr missense_variant Familial Maternal - 31928709 Beck DB , et al. (2020)
c.3265G>A p.Val1089Met missense_variant Familial Maternal - 31928709 Beck DB , et al. (2020)
c.1215del p.Trp406GlyfsTer135 frameshift_variant De novo NA - 31928709 Beck DB , et al. (2020)
c.4977_4983del p.His1660ProfsTer52 frameshift_variant Familial Paternal - 31928709 Beck DB , et al. (2020)
c.2722G>T p.Val908Leu missense_variant Familial Both parents Multiplex 30167849 Santos-Cortez RLP , et al. (2018)
Common Variants  

No common variants reported.

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SFARI Gene Update

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