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Relevance to Autism

De novo variants in the TBX22 gene were identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014), while a maternally-inherited missense variant in this gene was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020).

Molecular Function

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1181R001 
 missense_variant 
 c.452G>A 
 p.Arg151His 
 De novo 
 NA 
 Simplex 
 GEN1181R002 
 synonymous_variant 
 c.171G>T 
 p.Pro57%3D 
 De novo 
 NA 
 Simplex 
 GEN1181R003 
 missense_variant 
 c.452G>T 
 p.Arg151Leu 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 

No Animal Model Data Available

No PIN Data Available
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