Amyloidosis
Gene: B2M

B2M (beta-2-microglobulin)
EnsemblGeneIds (GRCh38): ENSG00000166710
EnsemblGeneIds (GRCh37): ENSG00000166710
OMIM: 109700, Gene2Phenotype
B2M is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 probands/families with amyloidosis and supporting in vitro functional studies.
Sources: Literature
Created: 10 Sep 2024, 11:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
variant ABeta2M amyloidosis MONDO:0017810

Publications

Created: 10 Sep 2024, 11:24 p.m.

Panel version: 0.25

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

variant ABeta2M amyloidosis MONDO:0017810

OMIM

109700

Clinvar variants

Variants in B2M

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: b2m has been classified as Green List (High Evidence).

10 Sep 2024, Gel status: 1

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