| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.30 | FTCD | Bryony Thompson Publications for gene: FTCD were set to 27604308; 12815595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.29 | FTCD | Bryony Thompson reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: None; Publications: http://iembase.com/disorder/47; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.29 | FTCD | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.29 | FTCD | Bryony Thompson edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.29 | FTCD |
Bryony Thompson changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. Sources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47). |
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| Miscellaneous Metabolic Disorders v0.143 | FTCD | Bryony Thompson Marked gene: FTCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.143 | FTCD | Bryony Thompson Gene: ftcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.143 | FTCD | Bryony Thompson Classified gene: FTCD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.143 | FTCD | Bryony Thompson Gene: ftcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.142 | FTCD |
Bryony Thompson gene: FTCD was added gene: FTCD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 27604308; 12815595 Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism Review for gene: FTCD was set to GREEN gene: FTCD was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. Sources: NHS GMS |
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