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: 18
Recent Reports: 0
Annotated variants: 50
Associated CNVs: 16
Evidence score: 3
ASD Reports: 18
Recent Reports: 0
Annotated variants: 50
Associated CNVs: 16
Evidence score: 3
| Associated Disorders: |
|
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
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
ASD, DD, ID
Support
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
DD, ID, ADHD
Epilepsy
Support
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
ASD
DD
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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD, ID
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
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
Cerebellar dysfunction with variable cognitive and
ASD or autistic features, ID
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ASD
Support
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
Cerebellar dysfunction with variable cognitive and
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, hypotonia, dysarthria
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Cognitive impairment
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN291R009
missense_variant
c.3403C>T
p.Arg1135Trp
De novo
Simplex
GEN291R023
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Paternal
Multiplex
GEN291R025
frameshift_variant
c.495dup
p.Tyr166LeufsTer114
De novo
Simplex
GEN291R027
frameshift_variant
c.792del
p.Tyr267ThrfsTer93
De novo
Simplex
GEN291R029
frameshift_variant
c.1780del
p.Asp594ThrfsTer42
De novo
Simplex
GEN291R032
frameshift_variant
c.2648del
p.Pro883GlnfsTer5
De novo
Simplex
GEN291R035
frameshift_variant
c.2871_2883del
p.Thr959ProfsTer31
Familial
Paternal
GEN291R036
frameshift_variant
c.4013_4014del
p.Glu1338GlyfsTer11
De novo
Simplex
Common
No Common Variants Available