Hereditary systemic amyloidosis

Gene: B2M

Amber List (moderate evidence)

B2M (beta-2-microglobulin)
EnsemblGeneIds (GRCh38): ENSG00000166710
EnsemblGeneIds (GRCh37): ENSG00000166710
OMIM: 109700, Gene2Phenotype
B2M is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Demoting from green to amber as only 1 family has been reported. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group.
Created: 12 Sep 2019, 3:47 p.m. | Last Modified: 8 Oct 2019, 1:07 p.m.
Panel Version: 0.18
Provisionally associated with ?Amyloidosis, familial visceral (#105200) in OMIM.

PMID: 22693999 - Valleix et al 2012 - report a French family with 4 members who had progressive bowel dysfunction with extensive visceral amyloid deposits composed of β2-microglobulin. All the members of this family had normal circulating concentrations of β2-microglobulin and normal renal function. A heterozygous mutation in the B2M gene was found in each of the affected family members c.286G→A, Asp76Asn. The 3 unaffected family members tested were all wild type. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions.

A PubMed search did not reveal any further cases.
Created: 13 Aug 2019, 9:49 a.m. | Last Modified: 13 Aug 2019, 1:15 p.m.
Panel Version: 0.7
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted: B2M;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. Other Comments: Already on the Periodic Fever Syndrome App, but evidence is red
Created: 2 Feb 2019, 3:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted



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


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review Amber
  • ?Amyloidosis, familial visceral 105200
Clinvar variants
Variants in B2M
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: B2M were changed from 105200 to ?Amyloidosis, familial visceral 105200

12 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b2m has been classified as Amber List (Moderate Evidence).

2 Feb 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: B2M was added gene: B2M was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: B2M was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: B2M were set to 22693999 Phenotypes for gene: B2M were set to 105200