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| Miscellaneous Metabolic Disorders v0.293 | PCK1 | Bryony Thompson Marked gene: PCK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.293 | PCK1 | Bryony Thompson Gene: pck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.293 | PCK1 | Bryony Thompson Classified gene: PCK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.293 | PCK1 | Bryony Thompson Gene: pck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.292 | PCK1 |
Bryony Thompson gene: PCK1 was added gene: PCK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK1 were set to 24863970; 28216384; 26971250; 27604308 Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis Review for gene: PCK1 was set to GREEN Added comment: 6 cases from 4 families with biallelic variants and supporting biochemical results and in vitro assays Sources: NHS GMS |
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