| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral amyloid angiopathy v0.7 | ITM2B | Bryony Thompson Marked gene: ITM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.7 | ITM2B | Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.7 | ITM2B | Bryony Thompson Classified gene: ITM2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.7 | ITM2B | Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.6 | ITM2B |
Bryony Thompson gene: ITM2B was added gene: ITM2B was added to Cerebral amyloid angiopathy. Sources: Expert list Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITM2B were set to 10391242; 10781099; 20385796; 33814452 Phenotypes for gene: ITM2B were set to Cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: ITM2B was set to Other Review for gene: ITM2B was set to GREEN gene: ITM2B was marked as current diagnostic Added comment: At least 4 unrelated families with dementia as a prominent feature of the phenotype and stop loss or protein elongating variants, and a supporting mouse model. Variants that result in the generation of peptide, which is deposited as amyloid fibrils causing neuronal disfunction and dementia. PMID: 10391242 - familial British dementia (FBD) stop loss variant (c.799T>A p.Ter267Arg) in British kindred with progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade of life. PMID: 10781099 - familial Danish dementia protein elongating variant (c.787_796dup p.Ser266fs) identified in a large Danish kindred with a dominant disorder characterised by cataracts, deafness, progressive ataxia, and dementia. PMID: 33814452 - a Chinese patient with dementia, ataxia, deafness, and paraplegia and a heterozygous stop loss variant (p.*267Leuext*11) ClinVar: SCV002059726.1 - likely pathogenic stop loss variant (c.800G>T p.Ter267Leu) similar to the FBD variant reported in an individual affected with ABri amyloidosis by Centogene AG PMID: 20385796 - mouse model of Danish variant demonstrates amyloid deposition in brain (to a lesser extent in the cerebellum), and increased anxiety. Sources: Expert list |
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