AutismKB

Evidence Detail for GAMT


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Basic Information Top
Gene Symbol:GAMT ( PIG2,TP53I2 )
Gene Full Name: guanidinoacetate N-methyltransferase
Band: 19p13.3
Quick LinksEntrez ID:2593; OMIM: 601240; Uniprot ID:GAMT_HUMAN; ENSEMBL ID: ENSG00000130005
Sequences Top
>GAMT|2593|nucleotide
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>GAMT|2593|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 3 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMGAMT deficiency (612736)
DescriptionGuanidine acetate methyltransferase (GAMT) deficiency (brain creatine deficiency, synthesis defect)
Reference(s)19892372; 20301745; 17336114;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004750 19 19p13.3 Gain 8 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000068 19p13.3 19 D19S209 - - 0.003 Schellenberg, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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