TET3
Homo sapiens
Gene Name: tet methylcytosine dioxygenase 3
Aliases: hCG_40738
Chromosome No: 2
Chromosome Band: 2p13.1
Genetic Category: Rare single gene variant-Syndromic
Aliases: hCG_40738
Chromosome No: 2
Chromosome Band: 2p13.1
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 3
Evidence score: 3
ASD Reports: 7
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
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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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
DD, ID
ASD or autistic features
Support
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
ID
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms
DD, ID
ASD or autistic features, epilepsy/seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1144R001a
missense_variant
c.2722G>T
p.Val908Leu
Familial
Both parents
Multiplex
GEN1144R007
frameshift_variant
c.4977_4983del
p.His1660ProfsTer52
Familial
Paternal
GEN1144R010b
missense_variant
c.2896T>G
p.Cys966Gly
Familial
Maternal
Multiplex
Common
No Common Variants Available
