Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ataxia - paediatric v0.235 | FBXL4 | Zornitza Stark Marked gene: FBXL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.235 | FBXL4 | Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.235 | FBXL4 | Zornitza Stark Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.234 | FBXL4 | Zornitza Stark Publications for gene: FBXL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.233 | FBXL4 | Zornitza Stark reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28383868; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.0 | FBXL4 |
Bryony Thompson gene: FBXL4 was added gene: FBXL4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |