GAMT Chromosome 19
Guanidinoacetate N-methyltransferase
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What This Gene Does
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"7BS small molecule methyltransferases|Small molecule methyltransferases"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000130005
Associated Conditions (17)
Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase
GAMT-related disorder
Inborn genetic diseases
Intellectual disability
Abnormality of the nervous system
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease
Lewy body dementia
7 conditions
GBA1-related disorder
Parkinson disease
late-onset
See cases
Key Variants
RS1367661704
Conflicting classifications of pathogenicity
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
Health Risk
RS2144636105
Conflicting classifications of pathogenicity
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
Health Risk
RS104894694
Likely pathogenic
Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
Health Risk
RS1057524499
Likely pathogenic
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
Health Risk
RS113246280
Likely pathogenic
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
Health Risk
RS121909272
Likely pathogenic
Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
Health Risk
RS1220169908
Likely pathogenic
Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
Health Risk
RS1371496558
Likely pathogenic
Deficiency of guanidinoacetate methyltransferase, GAMT-related disorder, Deficiency of guanidinoacetate methyltransferase
Health Risk
RS1443859067
Likely pathogenic
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
Health Risk
RS1447665588
Likely pathogenic
Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
Health Risk
RS1569006974
Likely pathogenic
Cerebral creatine deficiency syndrome, Inborn genetic diseases, Deficiency of guanidinoacetate methyltransferase
Health Risk
RS1600159342
Likely pathogenic
Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2144637533 | Health Risk | Pathogenic/Likely pathogenic | Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome |
| RS2144637546 | Health Risk | Pathogenic/Likely pathogenic | Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome |
| RS2144638048 | Health Risk | Pathogenic/Likely pathogenic | Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome |
| RS2512224441 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2512224776 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2512225602 | Health Risk | Pathogenic/Likely pathogenic | Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome |
| RS2512229186 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS556829801 | Health Risk | Pathogenic/Likely pathogenic | Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome |
| RS780806777 | Health Risk | Pathogenic/Likely pathogenic | Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome |
| RS80338734 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, See cases |
| RS967689898 | Health Risk | Pathogenic/Likely pathogenic | Cerebral creatine deficiency syndrome, Inborn genetic diseases, GAMT-related disorder |