| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.91 | ATP7A | Bryony Thompson Marked gene: ATP7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.91 | ATP7A | Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.91 | ATP7A | Bryony Thompson Classified gene: ATP7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.91 | ATP7A | Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.90 | ATP7A |
Bryony Thompson gene: ATP7A was added gene: ATP7A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 7842019; 8981948 Phenotypes for gene: ATP7A were set to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism Review for gene: ATP7A was set to GREEN gene: ATP7A was marked as current diagnostic Added comment: Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism. Sources: NHS GMS |
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