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| Likely inborn error of metabolism - targeted testing not possible v3.6 | NDUFA13 | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.6 | NDUFA13 | Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.5 | NDUFA13 |
Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA13. Source Expert Review Green was added to NDUFA13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v2.278 | NDUFA13 | Arina Puzriakova Classified gene: NDUFA13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.278 | NDUFA13 | Arina Puzriakova Gene: ndufa13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.277 | NDUFA13 | Arina Puzriakova Phenotypes for gene: NDUFA13 were changed from Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.276 | NDUFA13 | Arina Puzriakova Publications for gene: NDUFA13 were set to 25901006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.265 | NDUFA13 | Arina Puzriakova reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, OMIM: 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.264 | NDUFA13 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.373 | NDUFA13 | Catherine Snow reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.373 | NDUFA13 | Catherine Snow Publications for gene: NDUFA13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA13 |
Ellen McDonagh gene: NDUFA13 was added gene: NDUFA13 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA13 were set to Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency |
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