TSPAN7
Homo sapiens
Gene Name: tetraspanin 7
Aliases: A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; TALLA-1; TM4SF2b; DXS1692E
Chromosome No: X
Chromosome Band: Xp11.4
Genetic Category: Rare Single Gene variant-Functional
Aliases: A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; TALLA-1; TM4SF2b; DXS1692E
Chromosome No: X
Chromosome Band: Xp11.4
Genetic Category: Rare Single Gene variant-Functional
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 10
Evidence score: 2
ASD Reports: 9
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Studies have found rare mutations in the TSPAN7 gene that are associated with autism (e.g. Piton et al., 2011), although one of these found that a TSPAN7 duplication did not disrupt gene expression and so likely was not the cause for the disease (they also found no other variants in their screening of other autistic patients) (Noor et al., 2009). In addition, studies have found rare variants in TSPAN7 that are associated with mental retardation.
Molecular Function
A cell surface glycoprotein with a role in the control of neurite outgrowth
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
ASD, ADHD, DD, ID, epilepsy/seizures
Support
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
ID
Microcephaly
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
DD, ID
ASD, ADHD
Highly Cited
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58.
ID
Highly Cited
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
ID
Recent Recommendation
Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN259R004
frameshift_variant
c.564del
p.Leu189Ter
Familial
Maternal
Multi-generational
GEN259R009
frameshift_variant
c.289del
p.Leu97TrpfsTer8
Familial
Maternal
Common
No Common Variants Available
