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| Likely inborn error of metabolism - targeted testing not possible v4.17 | NDUFB3 | Arina Puzriakova Phenotypes for gene: NDUFB3 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | NDUFB3 | Sarah Leigh Added phenotypes Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | NDUFB3 |
Ivone Leong Source NHS GMS was added to NDUFB3. Source London North GLH was added to NDUFB3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB3 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFB3 Publications for gene NDUFB3 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB3 |
Ellen McDonagh gene: NDUFB3 was added gene: NDUFB3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency |
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