| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.6 | ATP2B3 | Bryony Thompson Marked gene: ATP2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.6 | ATP2B3 | Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.6 | ATP2B3 | Bryony Thompson Classified gene: ATP2B3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.6 | ATP2B3 | Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.5 | ATP2B3 | Bryony Thompson reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.0 | ATP2B3 |
Bryony Thompson gene: ATP2B3 was added gene: ATP2B3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: ATP2B3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1 |
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