CAMTA1
Homo sapiens
Gene Name: calmodulin binding transcription activator 1
Aliases: RP3-467L1.1
Chromosome No: 1
Chromosome Band: 1p36.31-p36.23
Genetic Category: Rare single gene variant-Syndromic
Aliases: RP3-467L1.1
Chromosome No: 1
Chromosome Band: 1p36.31-p36.23
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 14
Recent Reports: 0
Annotated variants: 46
Associated CNVs: 16
Evidence score: 3
ASD Reports: 14
Recent Reports: 0
Annotated variants: 46
Associated CNVs: 16
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
A rare deletion in the CAMTA1 gene has been identified with developmental delay (Mikhail et al., 2011).
Molecular Function
This protein is a transcriptional activator and may act as a tumor suppressor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
DD
ID, ADHD, PDD
Support
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Non-progressive congenital ataxia (NPCA)
ID
Support
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder
ASD
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, hypotonia, dysarthria
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Cognitive impairment
Support
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
DD, ID, ADHD
Epilepsy