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| Likely inborn error of metabolism - targeted testing not possible v2.229 | NDUFC2 | Ivone Leong Tag Q2_21_rating was removed from gene: NDUFC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.229 | NDUFC2 | Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.229 | NDUFC2 |
Ivone Leong Source Expert Review Green was added to NDUFC2. 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 v2.67 | NDUFC2 | Sarah Leigh Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.66 | NDUFC2 | Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.66 | NDUFC2 | Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.66 | NDUFC2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.66 | NDUFC2 | Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.65 | NDUFC2 | Sarah Leigh edited their review of gene: NDUFC2: Added comment: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (10 May 2019, Oxford University Hospitals NHS Trust).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.65 | NDUFC2 | Sarah Leigh Publications for gene: NDUFC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.64 | NDUFC2 | Sarah Leigh Added comment: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.64 | NDUFC2 | Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFC2 |
Ellen McDonagh gene: NDUFC2 was added gene: NDUFC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFC2 was set to Unknown Phenotypes for gene: NDUFC2 were set to No OMIM phenotype; Isolated complex I deficiency |
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