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Likely inborn error of metabolism - targeted testing not possible v1.47 | ASPA |
Ivone Leong Source NHS GMS was added to ASPA. Source London North GLH was added to ASPA. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAT8L |
Ellen McDonagh gene: NAT8L was added gene: NAT8L was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT8L were set to 19807691 Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency 614063 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASPA |
Ellen McDonagh gene: ASPA was added gene: ASPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 27604308 Phenotypes for gene: ASPA were set to Canavan disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGA |
Ellen McDonagh gene: AGA was added gene: AGA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 27604308 Phenotypes for gene: AGA were set to Aspartylglucosaminuria |