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| Likely inborn error of metabolism - targeted testing not possible v1.277 | SDHAF2 |
Ivone Leong edited their review of gene: SDHAF2: Added comment: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. This gene is present as an Amber gene on the Mitochondrial disorder with complex II deficiency (v 1.0) and Possible mitochondrial disorder - nuclear genes (v 1.12). Both GMS panels have been signed off by the GMS Metabolic Consensus Specialist Test Group. Therefore, this gene will remain Amber until further evidence is available.; Changed rating: AMBER |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SDHAF2 |
Ivone Leong Source NHS GMS was added to SDHAF2. Source London North GLH was added to SDHAF2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF2 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHAF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF2 |
Ellen McDonagh gene: SDHAF2 was added gene: SDHAF2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SDHAF2 were set to 27604308 Phenotypes for gene: SDHAF2 were set to Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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