Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hereditary Spastic Paraplegia - paediatric v0.60 | ACOX1 | Zornitza Stark Marked gene: ACOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.60 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.60 | ACOX1 | Zornitza Stark Publications for gene: ACOX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.6 | ACOX1 | Bryony Thompson reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 18536048; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency MIM#264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.0 | ACOX1 |
Bryony Thompson gene: ACOX1 was added gene: ACOX1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to Pseudoneonatal adrenoleukodystrophy |