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Relevance to Autism

Homozygous missense variants in the AMT gene were identified that segregated with ASD in two separate pedigrees (one multiplex, one simplex) consisting of affected children born to consanguineous parents (Yu et al., 2013).

Molecular Function

This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Using whole-exome sequencing to identify inherited causes of autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN526R001a 
 missense_variant 
 c.922A>T 
 p.Ile308Phe 
 Familial 
 Both parents 
 Multiplex 
 GEN526R002a 
 missense_variant 
 c.593A>G 
 p.Asp198Gly 
 Familial 
 Both parents 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 14
 
3
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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