| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral amyloid angiopathy v1.1 | Bryony Thompson Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.16 | TTR | Bryony Thompson Marked gene: TTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.16 | TTR | Bryony Thompson Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.16 | TTR | Bryony Thompson Classified gene: TTR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.16 | TTR | Bryony Thompson Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.15 | TTR |
Bryony Thompson gene: TTR was added gene: TTR was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 35040071; 8579098; 31257920; 27466465; 28991667; 11422811 Phenotypes for gene: TTR were set to cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: TTR was set to Other Review for gene: TTR was set to GREEN gene: TTR was marked as current diagnostic Added comment: Cerebral amyloid angiopathy has been reported in multiple cases with pathogenic TTR variants Sources: Literature |
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| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Marked gene: PSEN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Classified gene: PSEN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.13 | PSEN2 |
Bryony Thompson gene: PSEN2 was added gene: PSEN2 was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN2 were set to 9450781; 26888304 Phenotypes for gene: PSEN2 were set to cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: PSEN2 was set to Other Review for gene: PSEN2 was set to AMBER Added comment: Single PSEN2 variant (N141I) segregating with cerebral amyloid angiopathy in a single family (or possibly two families, not clear if the same family is referenced in both publications). Sources: Literature |
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| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Marked gene: PSEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Classified gene: PSEN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.11 | PSEN1 |
Bryony Thompson gene: PSEN1 was added gene: PSEN1 was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 11701593; 11079548; 34319632 Phenotypes for gene: PSEN1 were set to cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: PSEN1 was set to Other Review for gene: PSEN1 was set to GREEN gene: PSEN1 was marked as current diagnostic Added comment: Greater than 10 families/probands with pathogenic PSEN1 variants leading to amyloid accumulation and cerebral amyloid angiopathy (CAA). Sources: Literature |
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| Cerebral amyloid angiopathy v0.10 | PRNP | Bryony Thompson Mode of pathogenicity for gene: PRNP was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.9 | PRNP | Bryony Thompson Classified gene: PRNP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.9 | PRNP | Bryony Thompson Gene: prnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.8 | PRNP |
Bryony Thompson gene: PRNP was added gene: PRNP was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 8570627; 19225789; 34128081; 19911184; 24224623 Phenotypes for gene: PRNP were set to PrP systemic amyloidosis MONDO:0018339 Review for gene: PRNP was set to GREEN gene: PRNP was marked as current diagnostic Added comment: At least five probands/families reported with stopgain variants that lead to truncation of the C-terminus of the protein, which are associated with PrP amyloid in cerebral vessels Sources: Literature |
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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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| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Marked gene: CST3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Classified gene: CST3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.4 | CST3 |
Bryony Thompson gene: CST3 was added gene: CST3 was added to Cerebral amyloid angiopathy. Sources: Expert list Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423 Phenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150 Mode of pathogenicity for gene: CST3 was set to Other Review for gene: CST3 was set to GREEN Added comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6. Sources: Expert list |
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| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Marked gene: APP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Gene: app has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Classified gene: APP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Gene: app has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.2 | APP |
Bryony Thompson gene: APP was added gene: APP was added to Cerebral amyloid angiopathy. Sources: Expert list Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APP were set to 16178030; 11409420; 16612981; 19225789 Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related MONDO:0011583 Mode of pathogenicity for gene: APP was set to Other Review for gene: APP was set to GREEN gene: APP was marked as current diagnostic Added comment: Well-established cause of cerebral amyloid angiopathy. Loss of function is not the mechanism of disease. Disease-causing missense substitutions cause an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Sources: Expert list |
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| Cerebral amyloid angiopathy v0.1 | Bryony Thompson List of related panels changed from to Cerebral amyloid angiopathy; HP:0011970 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.0 |
Bryony Thompson Added Panel Cerebral amyloid angiopathy Set panel types to: Royal Melbourne Hospital |
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