AMT
Homo sapiens
Gene Name: Aminomethyltransferase
Aliases: GCE, GCST, GCVT, NKH
Chromosome No: 3
Chromosome Band: 3p21.31
Genetic Category: Rare single gene variant
Aliases: GCE, GCST, GCVT, NKH
Chromosome No: 3
Chromosome Band: 3p21.31
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 2
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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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
GEN526R003
frameshift_variant
c.1209del
p.Lys403AsnfsTer34
Familial
Paternal
Multiplex (monozygotic twins)
Common
No Common Variants Available