| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Early-onset Dementia v0.17 | WDR45 | Bryony Thompson Classified gene: WDR45 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.17 | WDR45 | Bryony Thompson Gene: wdr45 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.16 | WDR45 |
Bryony Thompson changed review comment from: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. Sources: Expert list; to: De novo variants identified in 5 female cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.16 | WDR45 |
Bryony Thompson gene: WDR45 was added gene: WDR45 was added to Early-onset Dementia. Sources: Expert list Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR45 were set to 23435086 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894 Review for gene: WDR45 was set to GREEN Added comment: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||