GATM Chromosome 15
Glycine amidinotransferase
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What This Gene Does
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
Arginine:glycine amidinotransferase deficiency
Inborn genetic diseases
Fanconi renotubular syndrome 1
Seizure
Key Variants
RS2541983871
Conflicting classifications of pathogenicity
Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
Health Risk
RS565509522
Conflicting classifications of pathogenicity
Arginine:glycine amidinotransferase deficiency, Inborn genetic diseases, Arginine:glycine amidinotransferase deficiency
Health Risk
RS748600834
Conflicting classifications of pathogenicity
Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Inborn genetic diseases
Health Risk
RS748841641
Conflicting classifications of pathogenicity
Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Arginine:glycine amidinotransferase deficiency
Health Risk
RS758611156
Conflicting classifications of pathogenicity
Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
Health Risk
RS780777061
Conflicting classifications of pathogenicity
Seizure, Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1
Health Risk
RS1244824806
Likely pathogenic
Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
Health Risk
RS1325460408
Likely pathogenic
Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 1
Health Risk
RS1461653218
Likely pathogenic
Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
Health Risk
RS1566842679
Likely pathogenic
Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
Health Risk
RS1889443484
Likely pathogenic
Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
Health Risk
RS2140644856
Likely pathogenic
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2541983871 | Health Risk | Conflicting classifications of pathogenicity | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS565509522 | Health Risk | Conflicting classifications of pathogenicity | Arginine:glycine amidinotransferase deficiency, Inborn genetic diseases, Arginine:glycine amidinotransferase deficiency |
| RS748600834 | Health Risk | Conflicting classifications of pathogenicity | Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Inborn genetic diseases |
| RS748841641 | Health Risk | Conflicting classifications of pathogenicity | Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Arginine:glycine amidinotransferase deficiency |
| RS758611156 | Health Risk | Conflicting classifications of pathogenicity | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS780777061 | Health Risk | Conflicting classifications of pathogenicity | Seizure, Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1 |
| RS1244824806 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS1325460408 | Health Risk | Likely pathogenic | Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 1 |
| RS1461653218 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS1566842679 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS1889443484 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2140644856 | Health Risk | Likely pathogenic | — |
| RS2140644920 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2140657166 | Health Risk | Likely pathogenic | Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 1 |
| RS2541984266 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2541986290 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2541989303 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2541994594 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2542005145 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2542006088 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2542009773 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS397514709 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS775933965 | Health Risk | Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS1032267288 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS1159856922 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS1889443535 | Health Risk | Pathogenic | Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 1 |
| RS1889477819 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS1889480453 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2140641896 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2140646735 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2541984182 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS2542009946 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS397514708 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Arginine:glycine amidinotransferase deficiency |
| RS397515542 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS80338737 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |
| RS80338738 | Health Risk | Pathogenic | Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1, Arginine:glycine amidinotransferase deficiency |
| RS1217229880 | Health Risk | Pathogenic/Likely pathogenic | Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency |