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| Likely inborn error of metabolism - targeted testing not possible v1.128 | FTCD | Sarah Leigh Classified gene: FTCD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.128 | FTCD |
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 relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 15 variants reported. |
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| Likely inborn error of metabolism - targeted testing not possible v1.128 | FTCD | Sarah Leigh Gene: ftcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.127 | FTCD | Sarah Leigh Publications for gene: FTCD were set to 27604308; 12815595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.126 | FTCD | Sarah Leigh Publications for gene: FTCD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.125 | FTCD | Sarah Leigh Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency to Glutamate formiminotransferase deficiency 229100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | FTCD |
Ivone Leong Source NHS GMS was added to FTCD. Source London North GLH was added to FTCD. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | FTCD |
Ellen McDonagh gene: FTCD was added gene: FTCD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 27604308 Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency |
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