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Relevance to Autism

De novo missense variants in the KCNC1 gene were identified in two ASD probands (Iossifov et al., 2014; Yuen et al., 2017) and a proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified KCNC1 as a gene with an excess of missense variants (false discovery rata < 5%, count >1) (Coe et al., 2018).

Molecular Function

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes; this channel plays an important role in the rapid repolarization of fast-firing brain neurons.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
ASD
Support
Prevalence and architecture of de novo mutations in developmental disorders.
DD
Recent Recommendation
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1074R001 
 missense_variant 
 c.889G>A 
 p.Gly297Ser 
 De novo 
  
 Simplex 
 GEN1074R002 
 missense_variant 
 c.1249G>T 
 p.Gly417Trp 
 De novo 
  
 Multiplex 
 GEN1074R003 
 missense_variant 
 c.1262C>T 
 p.Ala421Val 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 18
 
11
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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