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  2. Amyloidosis

Amyloidosis (Version 0.31)


Relevant disorders: Renal amyloidosis, HP:0001917; Amyloidosis, HP:0011034
Panel types: Victorian Clinical Genetics Services, KidGen, Royal Melbourne Hospital
Description
This panel contains genes that cause amyloidosis, characterised by a buildup of abnormal amyloid deposits in the heart, brain, kidneys, spleen and other parts of the body.

The panel was originally named "Renal Amyloidosis" and was developed by the KidGen Collaborative. It is also a consensus panel used by VCGS and RMH.
Panel Activity

3 reviewers

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

8 Entities

8 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green List (high evidence)
APOA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, 3 or more types, MIM#105200
Tags
Green List (high evidence)
APOA4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary amyloidosis, MONDO:0018634, APOA4-related
Tags
Green List (high evidence)
B2M
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • variant ABeta2M amyloidosis MONDO:0017810
Tags
Green List (high evidence)
FGA
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, familial visceral, MIM#105200
Tags
Green List (high evidence)
GSN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, Finnish type, MIM#105200
Tags
Green List (high evidence)
LYZ
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, renal, MIM#105200
Tags
Green List (high evidence)
NLRP3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muckle-Wells syndrome, MIM#191900
Tags
Green List (high evidence)
TTR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hereditary ATTR amyloidosis MONDO:0017132
Tags

Downloads

Download lists

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

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