Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2593
MIM: 601240
HGNC: 4136
Ensembl: ENSG00000130005
Variants:
dbSNP: 2593
ClinVar: 2593
TCGA: ENSG00000130005
COSMIC: GAMT
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38452609 | 2024 | ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. | 0 |
| 38452609 | 2024 | ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. | 0 |
| 34990904 | 2022 | Elastic net-based identification of GAMT as potential diagnostic marker for early-stage gastric cancer. | 4 |
| 35588794 | 2022 | Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome. | 1 |
| 34990904 | 2022 | Elastic net-based identification of GAMT as potential diagnostic marker for early-stage gastric cancer. | 4 |
| 35588794 | 2022 | Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome. | 1 |
| 31559727 | 2019 | A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism. | 5 |
| 31559727 | 2019 | A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism. | 5 |
| 29449460 | 2018 | PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. | 9 |
| 29449460 | 2018 | PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. | 9 |
| 28055022 | 2017 | Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. | 10 |
| 28055022 | 2017 | Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. | 10 |
| 26319512 | 2016 | A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. | 10 |
| 26319512 | 2016 | A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. | 10 |
| 26003046 | 2015 | Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. | 8 |
Citation
Dessen P
GAMT (guanidinoacetate N-methyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63694/submit-meetings/
