| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v1.65 | GFAP | Bryony Thompson Marked gene: GFAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.65 | GFAP | Bryony Thompson Gene: gfap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.65 | GFAP | Bryony Thompson Classified gene: GFAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.65 | GFAP | Bryony Thompson Gene: gfap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.64 | GFAP |
Bryony Thompson gene: GFAP was added gene: GFAP was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GFAP were set to 34146839 Phenotypes for gene: GFAP were set to Alexander disease MONDO:0008752 Review for gene: GFAP was set to GREEN gene: GFAP was marked as current diagnostic Added comment: Spasticity was a feature of the condition in 23.9% of an infantile cohort (n=135) with a clinical and genetic diagnosis of Alexander disease Sources: Expert list |
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