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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 Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases. |
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| 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 Added comment: Comment on phenotypes: Intellectual disability;Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 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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