Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hereditary Spastic Paraplegia - adult onset v0.17 | GALC | Bryony Thompson Marked gene: GALC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.17 | GALC | Bryony Thompson Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.17 | GALC | Bryony Thompson Classified gene: GALC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.17 | GALC | Bryony Thompson Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.16 | GALC |
Bryony Thompson gene: GALC was added gene: GALC was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984 Phenotypes for gene: GALC were set to Krabbe disease MIM#245200 Review for gene: GALC was set to GREEN Added comment: Adult onset spastic paraplegia is reported as a feature of the condition in greater than 3 cases. Sources: Expert list |