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Relevance to Autism

Biallelic variants in the NEO1 gene were identified in two ASD patients of Han Chinese descent (Siu et al., 2015).

Molecular Function

Multi-functional cell surface receptor for members of the BMP, netrin, and repulsive guidance molecule (RGM) families that regulates cell adhesion in many diverse developmental processes, including neural tube and mammary gland formation, myogenesis and angiogenesis. Netrin-Neogenin interactions result in a chemoattractive axon guidance response and cell-cell adhesion.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN782R001a 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
 Simplex 
 GEN782R001b 
 missense_variant 
 c.3388C>T 
 p.Arg1130Cys 
 Familial 
 Maternal 
 Simplex 
 GEN782R001c 
 intron_variant 
 c.2204-14_2204-2dup 
  
 Familial 
 Maternal 
 Simplex 
 GEN782R002a 
 missense_variant 
 c.302G>A 
 p.Arg101His 
 Familial 
 Maternal 
 Simplex 
 GEN782R002b 
 missense_variant 
 c.3388C>T 
 p.Arg1130Cys 
 Unknown 
 Not maternal 
 Simplex 
 GEN782R002c 
 intron_variant 
 c.2204-14_2204-2dup 
  
 Unknown 
 Not maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion-Duplication
 13
 
15
Deletion
 9
 
15
Deletion
 3
 
15
Deletion
 1
 
15
Duplication
 2
 
15
Deletion-Duplication
 13
 
15
Deletion
 8
 

No Animal Model Data Available



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