| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v2.9 | ARHGEF15 | Bryony Thompson Marked gene: ARHGEF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.9 | ARHGEF15 | Bryony Thompson Gene: arhgef15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.9 | ARHGEF15 | Bryony Thompson Classified gene: ARHGEF15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.9 | ARHGEF15 | Bryony Thompson Gene: arhgef15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.8 | ARHGEF15 |
Bryony Thompson gene: ARHGEF15 was added gene: ARHGEF15 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: ARHGEF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGEF15 were set to 36929019 Phenotypes for gene: ARHGEF15 were set to brain small vessel disease 5 with osteoporosis MONDO:0979880 Review for gene: ARHGEF15 was set to GREEN Added comment: PMID 36929019 reports 7 individuals from 4 families (3 independent) with autosomal dominant loss-of-function ARHGEF15 variants presenting with hereditary cerebral small vessel disease, adult‑onset cognitive impairment and osteoporotic fractures. This vascular‑cognitive phenotype aligns with the Early‑onset Dementia panel’s focus on cognitive impairment and dementia, supporting inclusion of ARHGEF15 on the panel. Sources: Literature |
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