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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PAH |
Ivone Leong Source NHS GMS was added to PAH. Source London North GLH was added to PAH. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DNM1L |
Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DNM1L Publications for gene DNM1L were changed from 17460227; PMID: 26825290 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DNM1L |
Ellen McDonagh gene: DNM1L was added gene: DNM1L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNM1L were set to 17460227; PMID: 26825290 Phenotypes for gene: DNM1L were set to Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PAH |
Ellen McDonagh gene: PAH was added gene: PAH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 27604308; 24816252 Phenotypes for gene: PAH were set to Phenylketonuria |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DYM | Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 for gene: DYM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||