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  2. Cerebral amyloid angiopathy

Cerebral amyloid angiopathy (Version 1.1)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Cerebral amyloid angiopathy, HP:0011970
Panel types: Royal Melbourne Hospital
Description
This panel contains the genes that are associated with cerebral amyloid angiopathy.

For differential diagnoses, the early-onset dementia panel is more suitable.
Panel Activity

1 reviewer

  • Bryony Thompson (Royal Melbourne Hospital)

7 Entities

7 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green List (high evidence)
APP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebral amyloid angiopathy, APP-related MONDO:0011583
Tags
Green List (high evidence)
CST3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebral amyloid angiopathy MIM#105150
Tags
Green List (high evidence)
ITM2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebral amyloid angiopathy MONDO:0005620
Tags
Green List (high evidence)
PRNP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PrP systemic amyloidosis MONDO:0018339
Tags
Green List (high evidence)
PSEN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cerebral amyloid angiopathy MONDO:0005620
Tags
Green List (high evidence)
TTR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cerebral amyloid angiopathy MONDO:0005620
Tags
Amber List (moderate evidence)
PSEN2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cerebral amyloid angiopathy MONDO:0005620
Tags

Major version comments

  • 2022-11-22 06:58 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
    All genes reviewed

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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