| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v0.63 | HNRNPA2B1 | Bryony Thompson Marked gene: HNRNPA2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.63 | HNRNPA2B1 | Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.63 | HNRNPA2B1 | Bryony Thompson Classified gene: HNRNPA2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.63 | HNRNPA2B1 | Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.62 | HNRNPA2B1 |
Bryony Thompson gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965 Phenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 Review for gene: HNRNPA2B1 was set to AMBER Added comment: One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model. Sources: Literature |
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