| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Likely inborn error of metabolism - targeted testing not possible v1.420 | BCAT2 | Ellen McDonagh Classified gene: BCAT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.420 | BCAT2 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to expert review from representation of the GMS Metabolic disease specialist test group; multiple cases reported and this is a treatable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.420 | BCAT2 | Ellen McDonagh Gene: bcat2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.419 | BCAT2 | Ellen McDonagh commented on gene: BCAT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.419 | BCAT2 | Ellen McDonagh Mode of inheritance for gene: BCAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.418 | BCAT2 | Ellen McDonagh Tag treatable tag was added to gene: BCAT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.418 | BCAT2 | Ellen McDonagh Publications for gene: BCAT2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | BCAT2 |
Ivone Leong Source NHS GMS was added to BCAT2. Source London North GLH was added to BCAT2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | BCAT2 |
Ellen McDonagh gene: BCAT2 was added gene: BCAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BCAT2 was set to Unknown Publications for gene: BCAT2 were set to 27604308 Phenotypes for gene: BCAT2 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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