Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hereditary Spastic Paraplegia - paediatric v0.73 | IBA57 | Bryony Thompson Marked gene: IBA57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.73 | IBA57 | Bryony Thompson Gene: iba57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.73 | IBA57 | Bryony Thompson Classified gene: IBA57 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.73 | IBA57 | Bryony Thompson Gene: iba57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.72 | IBA57 |
Bryony Thompson gene: IBA57 was added gene: IBA57 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 25609768; 30258207 Phenotypes for gene: IBA57 were set to Spastic paraplegia 74, autosomal recessive MIM#616451 Review for gene: IBA57 was set to GREEN Added comment: Three families with spastic paraparesis as a feature of the condition. Sources: Expert list |