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Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFV1 |
Ivone Leong Source NHS GMS was added to NDUFV1. Source London North GLH was added to NDUFV1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV1 | Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFV1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV1 |
Ellen McDonagh gene: NDUFV1 was added gene: NDUFV1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV1 were set to 27604308 Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |