Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Motor Neurone Disease v0.42 | GBE1 | Bryony Thompson Classified gene: GBE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Motor Neurone Disease v0.42 | GBE1 | Bryony Thompson Gene: gbe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Motor Neurone Disease v0.41 | GBE1 |
Bryony Thompson gene: GBE1 was added gene: GBE1 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 20301758; 26194201 Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570 Review for gene: GBE1 was set to GREEN Added comment: APBD can have upper and lower motor neuron involvement, and at least 5 cases in a cohort of 30 were misdiagnosed with ALS. Sources: Expert list |