Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hereditary Spastic Paraplegia - paediatric v0.46 | SACS | Zornitza Stark Marked gene: SACS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.46 | SACS | Zornitza Stark Gene: sacs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.46 | SACS | Zornitza Stark Classified gene: SACS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.46 | SACS | Zornitza Stark Gene: sacs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.45 | SACS | Zornitza Stark edited their review of gene: SACS: Changed phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - paediatric v0.45 | SACS |
Zornitza Stark gene: SACS was added gene: SACS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550 Review for gene: SACS was set to GREEN Added comment: Complex neurological phenotype but spasticity is prominent. Sources: Expert list |