| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v1.20 | TREX1 | Bryony Thompson Marked gene: TREX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.20 | TREX1 | Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.20 | TREX1 | Bryony Thompson Classified gene: TREX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.20 | TREX1 | Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v1.14 | TREX1 |
Lynn Tan gene: TREX1 was added gene: TREX1 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TREX1 were set to 29380913; 35699195; 36586737; 35307828 Phenotypes for gene: TREX1 were set to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0008641 Review for gene: TREX1 was set to GREEN gene: TREX1 was marked as current diagnostic Added comment: PMID: 35699195 Systematic review: frequency of cognitive features in TREX1 was 29% [36/123 individuals from 34 pedigrees] PMID: 29380913 Symptoms for this disorder start in adulthood and frequently include rapid loss of vision, multifocal strokes and dementia. PMID: 36586737 1. Female patient displayed the first symptoms at a very early-age, 57 years old, and originated from Serbia. She presented with mild cognitive impairment. 2. 53-year old Dutch patient who displayed presenile dementia 3. 39-year old Finnish patient presenting migrane without aura, severe and pervasive cognitive impairment PMID: 35307828 First stroke at age 39, diagnosed with severe amyloid angiopathy, and he also started suffering from migraines without aura and was later diagnosed with cognitive impairment Sources: Literature |
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