| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.24 | GAMT | Zornitza Stark Tag treatable tag was added to gene: GAMT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.153 | GAMT | Bryony Thompson Marked gene: GAMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.153 | GAMT | Bryony Thompson Gene: gamt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.153 | GAMT | Bryony Thompson Classified gene: GAMT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.153 | GAMT | Bryony Thompson Gene: gamt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.152 | GAMT |
Bryony Thompson gene: GAMT was added gene: GAMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 27604308; 8651275 Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism Review for gene: GAMT was set to GREEN gene: GAMT was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Guanidinoacetate methyltransferase (GAMT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism. Sources: NHS GMS |
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| Miscellaneous Metabolic Disorders v0.50 | AMT | Bryony Thompson Marked gene: AMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.50 | AMT | Bryony Thompson Gene: amt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.50 | AMT | Bryony Thompson Classified gene: AMT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.50 | AMT | Bryony Thompson Gene: amt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.49 | AMT |
Bryony Thompson gene: AMT was added gene: AMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 8188235; 10873393; 11592811 Phenotypes for gene: AMT were set to Glycine encephalopathy MIM#605899; disorder of glycine metabolism Review for gene: AMT was set to GREEN gene: AMT was marked as current diagnostic Added comment: Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry). Sources: NHS GMS |
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