Summary Statistics:
Gene Score: 3
Relevance to Autism
Two de novo variants (a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the CACNA1E gene in ASD probands (O'Roak et al., 2012; Neale et al., 2012). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 1.151E-02 (Takata et al., 2016).
Molecular Function
This gene encodes the alpha-1E subunit of R-type calcium channels, which belong to the 'high-voltage activated' group that may be involved in the modulation of firing patterns of neurons important for information processing.
References
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Cav2.3 channels are critical for oscillatory burst discharges in the reticular thalamus and absence epilepsy.
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
Support
Altered cerebellar function in mice lacking CaV2.3 Ca2 channel.
Support
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
ASD
Support
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
ASD
Support
Epilepsy/seizures
ADHD, DD
Support
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Epilepsy/seizures
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Neuromuscular disorder
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
DD, epilepsy/seizures
Support
The CaV2.3 R-type voltage-gated Ca2 channel in mouse sleep architecture.
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Support
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Recent Recommendation
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
DD, epilepsy/seizures
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
DD, ID
ASD, stereotypy
GEN813R001
missense_variant
c.3625G>A
p.Gly1209Ser
De novo
Simplex
GEN813R002
synonymous_variant
c.3738C>T
p.Asn1246=
De novo
GEN813R003a
missense_variant
c.2093T>C
p.Phe698Ser
Unknown
Unknown
GEN813R003b
missense_variant
c.2635C>T
p.Arg879Trp
Unknown
Unknown
GEN813R004
missense_variant
c.1375C>T
p.Arg459Trp
De novo
Simplex
GEN813R005
missense_variant
c.683T>C
p.Leu228Pro
De novo
GEN813R006
missense_variant
c.1042G>C
p.Gly348Arg
De novo
GEN813R007
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R008
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R009
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R010
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R011
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R012
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R013
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R014
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R015
missense_variant
c.1054G>A
p.Gly352Arg
De novo
GEN813R016
missense_variant
c.1807A>C
p.Ile603Leu
De novo
GEN813R017
missense_variant
c.2069G>A
p.Gly690Asp
De novo
GEN813R018
missense_variant
c.2093T>C
p.Phe698Ser
De novo
GEN813R019
missense_variant
c.2098G>A
p.Ala700Thr
De novo
GEN813R020
missense_variant
c.2101A>G
p.Ile701Val
De novo
GEN813R021
missense_variant
c.2101A>G
p.Ile701Val
De novo
GEN813R022
missense_variant
c.2101A>G
p.Ile701Val
De novo
GEN813R023
missense_variant
c.2104G>A
p.Ala702Thr
De novo
GEN813R024
missense_variant
c.2104G>A
p.Ala702Thr
De novo
GEN813R025
missense_variant
c.2104G>A
p.Ala702Thr
De novo
GEN813R026
missense_variant
c.2104G>A
p.Ala702Thr
De novo
GEN813R027
missense_variant
c.2104G>A
p.Ala702Thr
De novo
GEN813R028
missense_variant
c.2104G>A
p.Ala702Thr
De novo
GEN813R029
missense_variant
c.2104G>C
p.Ala702Pro
De novo
GEN813R030
missense_variant
c.4264A>T
p.Ile1422Phe
De novo
GEN813R031
missense_variant
c.4274C>A
p.Thr1425Asn
De novo
GEN813R032
missense_variant
c.4274C>A
p.Thr1425Asn
De novo
GEN813R033
missense_variant
c.4288G>A
p.Gly1430Arg
De novo
GEN813R034
missense_variant
c.5159C>G
p.Ala1720Gly
Unknown
Not maternal
GEN813R035
stop_gained
c.2485C>T
p.Arg829Ter
Unknown
GEN813R036
stop_gained
c.4165C>T
p.Arg1389Ter
Unknown
GEN813R037
frameshift_variant
c.4263_4271delinsG
p.Ile1422HisfsTer8
Familial
Paternal
GEN813R038
missense_variant
c.4688A>G
p.Lys1563Arg
De novo
Simplex
GEN813R039
missense_variant
c.5258G>A
p.Arg1753Gln
De novo
Simplex
GEN813R040
missense_variant
c.1375C>T
p.Arg459Trp
De novo
Simplex
GEN813R041
missense_variant
c.934A>G
p.Thr312Ala
De novo
Simplex
GEN813R042
missense_variant
c.3422C>T
p.Pro1141Leu
De novo
Simplex
GEN813R043
missense_variant
c.2555G>C
p.Arg852Pro
De novo
Simplex
GEN813R044
splice_site_variant
c.3731+5A>G
De novo
Simplex
GEN813R045
missense_variant
c.476G>A
p.Gly159Asp
Unknown
GEN813R046
stop_gained
c.4879C>T
p.Gln1627Ter
Unknown
GEN813R047
missense_variant
c.488T>C
p.Met163Thr
De novo
Simplex
GEN813R048
missense_variant
c.1499A>G
p.Gln500Arg
De novo
Simplex
GEN813R049
missense_variant
c.2060C>T
p.Thr687Ile
De novo
Simplex
GEN813R050
missense_variant
c.2104G>T
p.Ala702Ser
De novo
Simplex
GEN813R051
missense_variant
c.2105C>T
p.Ala702Val
De novo
Simplex
GEN813R052
missense_variant
c.2108T>G
p.Val703Gly
De novo
Simplex
GEN813R053
splice_site_variant
c.3422+1G>A
De novo
Simplex
GEN813R054
missense_variant
c.5875C>A
p.Gln1959Lys
Unknown
GEN813R055
synonymous_variant
c.603G>A
p.Val201%3D
Unknown
GEN813R056
missense_variant
c.5875C>A
p.Gln1959Lys
Familial
Paternal
GEN813R057
missense_variant
c.5197T>G
p.Ser1733Ala
Unknown
GEN813R058
missense_variant
c.3549C>A
p.Asn1183Lys
De novo
GEN813R059
missense_variant
c.4775C>A
p.Thr1592Asn
De novo
Simplex
GEN813R060
stop_gained
c.5677C>T
p.Gln1893Ter
De novo
GEN813R061
synonymous_variant
c.6708C>T
p.His2236%3D
De novo
GEN813R062
frameshift_variant
c.1080_1081dup
p.Val361GlufsTer9
De novo
GEN813R063
frameshift_variant
c.1080_1081dup
p.Val361GlufsTer9
De novo
GEN813R064
stop_gained
c.4126C>T
p.Gln1376Ter
De novo
GEN813R065
missense_variant
c.6347G>A
p.Arg2116His
De novo
GEN813R066
splice_site_variant
c.3422+1G>A
p.?
De novo
Simplex
GEN813R067
missense_variant
c.2104G>A
p.Ala702Thr
Unknown
Simplex
GEN813R068
stop_gained
c.2485C>T
p.Arg829Ter
Unknown
Simplex
GEN813R069
missense_variant
c.6881G>T
p.Gly2294Val
Unknown
GEN813R070
splice_region_variant
c.5579-5T>C
Unknown
No Common Variants Available
1
Deletion-Duplication
18
Summary Statistics:
Show all nodes
Hide non-ASD
