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Likely inborn error of metabolism - targeted testing not possible v1.47 | DGUOK |
Ivone Leong Source NHS GMS was added to DGUOK. Source London North GLH was added to DGUOK. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DGUOK | Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: DGUOK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | DGUOK |
Ellen McDonagh gene: DGUOK was added gene: DGUOK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 27604308 Phenotypes for gene: DGUOK were set to Deoxyguanosine kinase deficiency (Disorders of purine metabolism); Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |