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Relevance to Autism

ABCA7 showed the strongest evidence of being associated with autism (OR=8.5 0.75) with all rare variant transmission disequilibrium test (RV-TDT) methods (range of p-values, 1.4E-04 to 2.9E-04) that were used to analyze exome data from 199 autism trios from the Simons Simplex Collection (He et al., 2014).

Molecular Function

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. It plays a role in phagocytosis by macrophages of apoptotic cells and may function in apolipoprotein-mediated phospholipid efflux from cells, mediate cholesterol efflux, and regulate cellular ceramide homeostasis during keratinocytes differentiation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN590R001 
 missense_variant 
 c.995G>A 
 p.Gly332Glu 
 Familial 
  
 Simplex 
 GEN590R002 
 missense_variant 
 c.1324G>A 
 p.Gly442Arg 
 Familial 
  
 Simplex 
 GEN590R003 
 missense_variant 
 c.1534C>G 
 p.Arg512Gly 
 Familial 
  
 Simplex 
 GEN590R004 
 missense_variant 
 c.2629G>A 
 p.Ala877Thr 
 Familial 
  
 Simplex 
 GEN590R005 
 missense_variant 
 c.2858C>A 
 p.Ala953Asp 
 Familial 
  
 Simplex 
 GEN590R006 
 missense_variant 
 c.4795G>A 
 p.Val1599Met 
 Familial 
  
 Simplex 
 GEN590R007 
 missense_variant 
 c.5344C>T 
 p.Arg1782Trp 
 Familial 
  
 Simplex 
 GEN590R008 
 missense_variant 
 c.5435G>A 
 p.Arg1812His 
 Familial 
  
 Simplex 
 GEN590R009 
 missense_variant 
 c.5648C>T 
 p.Thr1883Met 
 Familial 
  
 Simplex 
 GEN590R010 
 missense_variant 
 c.6322G>A 
 p.Glu2108Lys 
 Familial 
  
 Simplex 
 GEN590R011 
 missense_variant 
 c.5783G>A 
 p.Gly1928Glu 
 De novo 
 NA 
 Simplex 
 GEN590R012 
 splice_site_variant 
 c.1445+1G>C 
  
 Familial 
 Paternal 
 Multiplex 
 GEN590R013 
 missense_variant 
 c.1637T>G 
 p.Leu546Arg 
 De novo 
 NA 
 Multiplex 
 GEN590R014 
 stop_gained 
 c.3423G>A 
 p.Glu1141= 
 Familial 
 Paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 32
 
19
Deletion-Duplication
 9
 

No Animal Model Data Available

 

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