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Likely inborn error of metabolism - targeted testing not possible v1.120 | FECH | Sarah Leigh Classified gene: FECH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.120 | FECH |
Sarah Leigh Added comment: Comment on list classification: 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. Associated with phenotype in OMIM and not in Gen2Phen. At least 16 variants identified in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.120 | FECH | Sarah Leigh Gene: fech has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.119 | FECH | Sarah Leigh Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 177000 to Protoporphyria, erythropoietic, 1 177000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.119 | FECH | Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic protoporphyria, mild variant; Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity) to Protoporphyria, erythropoietic, 1 177000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | FECH |
Ivone Leong Source NHS GMS was added to FECH. Source London North GLH was added to FECH. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FECH |
Ellen McDonagh gene: FECH was added gene: FECH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FECH were set to 27604308 Phenotypes for gene: FECH were set to Erythropoietic protoporphyria, mild variant; Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity) |