1. Panels
  2. Cerebral amyloid angiopathy
  3. TTR
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral amyloid angiopathy

Gene: TTR

Green List (high evidence)
TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Cerebral amyloid angiopathy has been reported in multiple cases with pathogenic TTR variants
Sources: Literature
Created: 22 Nov 2022, 6:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cerebral amyloid angiopathy MONDO:0005620

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Nov 2022, 6:56 a.m.

Panel version: 0.15

History Filter Activity

22 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ttr has been classified as Green List (High Evidence).

22 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ttr has been classified as Green List (High Evidence).

22 Nov 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

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