| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Likely inborn error of metabolism - targeted testing not possible v1.131 | GAMT | Sarah Leigh Classified gene: GAMT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.131 | GAMT | Sarah Leigh Gene: gamt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.130 | GAMT | Sarah Leigh Publications for gene: GAMT were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.129 | GAMT | Sarah Leigh Phenotypes for gene: GAMT were changed from Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) to Cerebral creatine deficiency syndrome 2 612736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | GAMT |
Ivone Leong Source NHS GMS was added to GAMT. Source London North GLH was added to GAMT. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | AMT |
Ivone Leong Source NHS GMS was added to AMT. Source London North GLH was added to AMT. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GAMT |
Ellen McDonagh gene: GAMT was added gene: GAMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 27604308 Phenotypes for gene: GAMT were set to Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | AMT |
Ellen McDonagh gene: AMT was added gene: AMT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 27604308 Phenotypes for gene: AMT were set to Glycine encephalopathy |
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