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| Likely inborn error of metabolism - targeted testing not possible v4.19 | NDUFV2 | Arina Puzriakova Phenotypes for gene: NDUFV2 were changed from Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFV2 |
Ivone Leong Source NHS GMS was added to NDUFV2. Source London North GLH was added to NDUFV2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV2 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFV2 Publications for gene NDUFV2 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV2 |
Ellen McDonagh gene: NDUFV2 was added gene: NDUFV2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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