| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v1.82 | CP | Bryony Thompson Publications for gene: CP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.81 | Bryony Thompson Copied gene CP from panel Ataxia - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.81 | CP |
Bryony Thompson gene: CP was added gene: CP was added to Ataxia. Sources: Royal Melbourne Hospital,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Aceruloplasminemia, 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 |
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| Ataxia v0.47 | WDPCP | Bryony Thompson Marked gene: WDPCP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v0.47 | WDPCP | Bryony Thompson Gene: wdpcp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v0.47 | WDPCP |
Bryony Thompson gene: WDPCP was added gene: WDPCP was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Review for gene: WDPCP was set to RED Added comment: Ataxia not a reported phenotypic feature associated with this gene.` Sources: Expert list |
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