| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Incidentalome v0.254 | ATP7B | Bryony Thompson Publications for gene: ATP7B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.253 | ATP7B | Bryony Thompson Tag treatable tag was added to gene: ATP7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.253 | ATP7B | Bryony Thompson Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.252 | ATP7B | Bryony Thompson Phenotypes for gene: ATP7B were changed from to Wilson Disease (MONDO:0010200; MIM #277900) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.223 | ATP7B | Sangavi Sivagnanasundram reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298639, 9554743, 10790207, 7626145, 16133174; Phenotypes: Wilson Disease (MONDO:0010200, MIM #277900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.223 | ATP7B | Sangavi Sivagnanasundram Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.223 | ATP7B | Sangavi Sivagnanasundram changed review comment from: Well established gene known to be causative of Wilson Disease (Gene Reviews: NBK1512); Loss of function is a well established mechanism - functional study showed impaired production of copper transport and abberant cellular localization of mutant ATP7B proteins – PMID: 16133174; to: Well established gene known to be causative of Wilson Disease (Gene Reviews: NBK1512); Loss of function is a well established mechanism - functional study showed impaired production of copper transport and abberant cellular localization of mutant ATP7B proteins – PMID: 16133174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.223 | ATP7B | Sangavi Sivagnanasundram reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8298639, 9554743, 10790207, 7626145, 16133174; Phenotypes: Wilson Disease (MIM#277900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.0 | ATP7B |
Zornitza Stark gene: ATP7B was added gene: ATP7B was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP7B was set to Unknown |
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