GAMT
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GAMT (HGNC:4136) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
guanidinoacetate N-methyltransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PIG2, TP53I2
%HI
62.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.54(Read more about gnomAD LOEUF score)
Cytoband
19p13.3
Genomic Coordinates
GRCh37/hg19: chr19:1397025-1401541 NCBI Ensembl UCSC
GRCh38/hg38: chr19:1397026-1401542 NCBI Ensembl UCSC
MANE Select Transcript
NM_000156.6 ENST00000252288.8 (Read more about MANE Select)
Function
Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674). {ECO:0000269|PubMed:24415674, ECO:0000269|PubMed:26003046, ECO:0000269|PubMed:26319512}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3334
ClinGen Curation ID:
CCID:007185
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • guanidinoacetate methyltransferase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)