| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.262 | GPHN | Bryony Thompson Marked gene: GPHN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.262 | GPHN | Bryony Thompson Gene: gphn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.262 | GPHN | Bryony Thompson Classified gene: GPHN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.262 | GPHN | Bryony Thompson Gene: gphn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.261 | GPHN |
Bryony Thompson gene: GPHN was added gene: GPHN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPHN were set to 27604308; 11095995; 22040219; 9812897 Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C MIM#615501; Disorders of molybdenum cofactor metabolism Review for gene: GPHN was set to GREEN Added comment: 4 cases in 2 unrelated families and a supporting null mouse model. Sources: NHS GMS |
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