1. Panels
  2. Hereditary systemic amyloidosis
The latest signed off version for the GMS is v1.24. The current version, shown here, may differ from the signed-off version.

Hereditary systemic amyloidosis (Version 1.28)

Level 2: Renal

Relevant disorders: Amyloidosis, R204
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Latest signed off version: v1.24 (30 Apr 2025)
Previously signed off versions: v1.22, v1.18, v1.2
Description
This panel is used for clinical indication 'R204 Hereditary systemic amyloidosis' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R204 Hereditary systemic amyloidosis'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries
Panel Activity

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

12 Entities

12 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green List (high evidence)
APOA1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Amyloidosis, 3 or more types OMIM:105200
  • familial visceral amyloidosis MONDO:0007099
Tags
Green List (high evidence)
APOA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green List (high evidence)
APOC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Tags
  • missense
Green List (high evidence)
FGA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Amyloidosis, familial visceral, OMIM:105200
Tags
Green List (high evidence)
GSN
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Amyloidosis, Finnish type, OMIM:105120
Tags
Green List (high evidence)
LYZ
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Amyloidosis, renal 105200
Tags
Green List (high evidence)
TTR
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • treatable
Amber List (moderate evidence)
APOA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106
  • tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234
  • AApoAIV amyloidosis, MONDO:0018589
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
APOC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
B2M
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Amyloidosis, familial visceral 105200
Tags
Amber List (moderate evidence)
CST3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cerebral amyloid angiopathy 105150
Tags
Amber List (moderate evidence)
NLRP3
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Muckle-Wells syndrome, OMIM:191900
  • Renal amyloidosis
Tags

Major version comments

  • 2019-10-08 13:14 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.18) was signed off under NHS Genomic Medicine Service governance on (08/October/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

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

Download Version