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| Likely inborn error of metabolism v4.22 | NDUFS1 | Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; 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 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | NDUFS1 |
Ivone Leong Source NHS GMS was added to NDUFS1. Source London North GLH was added to NDUFS1. |
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| Likely inborn error of metabolism v0.4 | NDUFS1 |
Ellen McDonagh Added phenotypes 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 for gene: NDUFS1 Publications for gene NDUFS1 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | NDUFS1 |
Ellen McDonagh gene: NDUFS1 was added gene: NDUFS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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