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Relevance to Autism

Rare de novo missnese variants in the CACNA1D gene have been identified in ASD probands from the Simons Simplex Collection (ORoak et al., 2012; Iossifov et al., 2012).

Molecular Function

The encoded protein has low voltage-gated calcium channel activity. Mutations in this gene are responsible for primary aldosteronism with seizures and neurologic abnormalities (PASNA; OMIM 615474).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Calcium channel activation and self-biting in mice.
Self-biting
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
Epilepsy/seizures
Support
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Support
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
ASD, ID, epilepsy/seizures
Support
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
ASD
Support
Association of CaV1.3 L-type calcium channels with Shank.
Support
An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2)-dependent regulation.
Support
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
ASD, epilepsy/seizures
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.
Highly Cited
alpha 1D (Cav1.3) subunits can form l-type Ca2 channels activating at negative voltages.
Recent Recommendation
CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Functional roles of Cav1.3(alpha1D) calcium channels in atria: insights gained from gene-targeted null mutant mice.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN032R001 
 missense_variant 
 c.2306C>G 
 p.Ala769Gly 
 De novo 
 NA 
 Simplex 
 GEN032R002 
 missense_variant 
 c.1219G>A 
 p.Gly407Arg 
 De novo 
 NA 
 Simplex 
 GEN032R003 
 synonymous_variant 
 c.1023C>T 
 p.Asn341%3D 
 Unknown 
  
 Unknown 
 GEN032R004 
 synonymous_variant 
 c.2802C>T 
 p.Phe934%3D 
 Unknown 
  
 Unknown 
 GEN032R005 
 missense_variant 
 c.1615G>C 
 p.Ala539Pro 
 Unknown 
  
 Unknown 
 GEN032R006 
 missense_variant 
 c.3952C>T 
 p.Pro1318Ser 
 Unknown 
  
 Unknown 
 GEN032R007 
 missense_variant 
 c.5381T>A 
 p.Ile1794Asn 
 Unknown 
  
 Unknown 
 GEN032R008 
 intron_variant 
 c.4262+560C>T 
  
 Unknown 
  
 Unknown 
 GEN032R009 
 stop_gained 
 c.4897C>T 
 p.Gln1633Ter 
 Unknown 
  
 Unknown 
 GEN032R010 
 splice_site_variant 
 G>T 
  
 Unknown 
  
 Unknown 
 GEN032R011 
 missense_variant 
 c.1810G>A 
 p.Val604Ile 
 De novo 
 NA 
 Simplex 
 GEN032R012 
 missense_variant 
 c.1261G>A 
 p.Asp421Asn 
 Familial 
 Paternal 
 Simplex 
 GEN032R013 
 missense_variant 
 c.1792G>A 
 p.Gly598Ser 
 Familial 
 Paternal 
 Simplex 
 GEN032R014 
 missense_variant 
 c.1808G>A 
 p.Arg603His 
 Familial 
 Paternal 
 Simplex 
 GEN032R015 
 missense_variant 
 c.5816G>A 
 p.Arg1939Gln 
 Familial 
 Paternal 
 Simplex 
 GEN032R016 
 missense_variant 
 c.5072C>A 
 p.Thr1691Asn 
 Familial 
 Maternal 
 Simplex 
 GEN032R017 
 missense_variant 
 c.1631T>G 
 p.Leu544Trp 
 Familial 
 Paternal 
 Simplex 
 GEN032R018 
 missense_variant 
 c.1631T>G 
 p.Leu544Trp 
 Familial 
 Maternal 
 Simplex 
 GEN032R019 
 missense_variant 
 c.3433C>G 
 p.Arg1145Gly 
 Familial 
 Paternal 
 Simplex 
 GEN032R020 
 missense_variant 
 c.3607C>T 
 p.Arg1203Cys 
 Familial 
 Paternal 
 Simplex 
 GEN032R021 
 missense_variant 
 c.176C>T 
 p.Ala59Val 
 Unknown 
  
 Unknown 
 GEN032R022 
 missense_variant 
 c.1033A>C 
 p.Thr345Pro 
 Unknown 
  
 Unknown 
 GEN032R023 
 missense_variant 
 c.2612T>G 
 p.Leu871Trp 
 Unknown 
  
 Unknown 
 GEN032R024 
 missense_variant 
 c.2789G>A 
 p.Arg930His 
 Unknown 
  
 Unknown 
 GEN032R025 
 missense_variant 
 c.3578G>A 
 p.Arg1193His 
 Unknown 
  
 Unknown 
 GEN032R026 
 missense_variant 
 c.5990C>G 
 p.Ser1997Trp 
 Unknown 
  
 Unknown 
 GEN032R027 
 missense_variant 
 c.6053C>A 
 p.Thr2018Asn 
 Unknown 
  
 Unknown 
 GEN032R028 
 missense_variant 
 c.6122G>A 
 p.Arg2041His 
 Unknown 
  
 Unknown 
 GEN032R029 
 missense_variant 
 c.826C>T 
 p.Leu276Phe 
 Unknown 
  
 Unknown 
 GEN032R030 
 missense_variant 
 c.1112A>C 
 p.Tyr371Ser 
 Unknown 
  
 Unknown 
 GEN032R031 
 missense_variant 
 c.1810G>A 
 p.Val604Ile 
 Unknown 
  
 Unknown 
 GEN032R032 
 missense_variant 
 c.3788T>C 
 p.Val1263Ala 
 Unknown 
  
 Unknown 
 GEN032R033 
 missense_variant 
 c.5023C>T 
 p.Arg1675Trp 
 Unknown 
  
 Unknown 
 GEN032R034 
 missense_variant 
 c.1105G>A 
 p.Val369Met 
 Unknown 
  
 Unknown 
 GEN032R035 
 missense_variant 
 c.6275G>A 
 p.Gly2092Glu 
 Unknown 
  
 Unknown 
 GEN032R036 
 missense_variant 
 c.2015C>T 
 p.Ser672Leu 
 De novo 
 NA 
 Unknown 
 GEN032R037 
 missense_variant 
 c.1201G>C 
 p.Val401Leu 
 De novo 
 NA 
  
 GEN032R038 
 missense_variant 
 c.1534T>G 
 p.Trp512Gly 
 De novo 
 NA 
  
 GEN032R039 
 missense_variant 
 c.2206A>G 
 p.Met736Val 
 Familial 
  
 Simplex 
 GEN032R040 
 missense_variant 
 c.3187C>T 
 p.Arg1063Cys 
 Familial 
  
 Simplex 
 GEN032R041 
 missense_variant 
 c.3862G>A 
 p.Ala1288Thr 
 Familial 
  
 Simplex 
 GEN032R042 
 missense_variant 
 c.5846G>A 
 p.Arg1949His 
 Familial 
  
 Simplex 
 GEN032R043 
 missense_variant 
 c.790A>G 
 p.Ile264Val 
 Familial 
  
 Simplex 
 GEN032R044 
 missense_variant 
 c.920A>C 
 p.Asp307Ala 
 Familial 
  
 Simplex 
 GEN032R045 
 missense_variant 
 c.1493G>T 
 p.Arg498Leu 
 Unknown 
  
  
 GEN032R046 
 missense_variant 
 c.4444G>C 
 p.Val1482Leu 
 De novo 
 NA 
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN032C001 
 intergenic_variant 
 rs312477 
 G>A 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 7
 
3
Deletion
 2
 
3
Deletion
 1
 

No Animal Model Data Available

No PIN Data Available
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