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.

9 reviewers

  • Abhijit Kulkarni (Healius Pathology)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Chirag Patel (Genetic Health Queensland)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Krithika Murali (Victorian Clinical Genetics Services)

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

11 Entities

11 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green Green List (high evidence)
APOA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, 3 or more types, MIM#105200
Tags
Green Green List (high evidence)
APOA4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary amyloidosis, MONDO:0018634, APOA4-related
  • Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106
Tags
Green Green List (high evidence)
B2M
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • variant ABeta2M amyloidosis MONDO:0017810
Tags
Green Green List (high evidence)
FGA
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, familial visceral, MIM#105200
Tags
Green Green List (high evidence)
GPNMB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • amyloidosis, primary localized cutaneous, 3 MONDO:0054765
Tags
Green Green List (high evidence)
GSN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyloidosis, Finnish type, MIM#105200
Tags
Green Green List (high evidence)
LYZ
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, renal, MIM#105200
Tags
Green Green List (high evidence)
NLRP3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muckle-Wells syndrome, MIM#191900
Tags
Green Green List (high evidence)
OSMR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary cutaneous amyloidosis MONDO:0015301
Tags
Green Green List (high evidence)
TTR
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hereditary ATTR amyloidosis MONDO:0017132
Tags
Amber Amber List (moderate evidence)
APOC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • APOC2-related amyloidosis, MONDO:0019065
Tags

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