Amyloidosis

Gene: B2M

Green List (high evidence)

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

2 reviews

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with immunodeficiency and bi-allelic variants: Two unrelated families and Two mouse models. PMID: 16549777 (2006). 2 related individuals, homozygous for missense c.913G-C (transversion) in B2M gene; two mouse models. They both presented with Familial hypocalciuric hypercalcemia (FHH), IgG deficiencies (severe FcRn deficiency) and B2M serum levels less than 1.0%. PMID: 25702838 (2015). 2 related individuals, homozygous for missense c.67+1G-T (transversion) variant (parents were heterozygotes) in B2M gene. One individual presented with recurrent respiratory tract infections and severe skin disease, and the other was reasonably asymptomatic but had bronchiectasis.

Association with visceral amyloidosis and mono allelic variants: single multiplex family reported segregating missense variant. Limited.
Created: 15 Jul 2021, 8:25 a.m. | Last Modified: 15 Jul 2021, 8:25 a.m.
Panel Version: 0.8328

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyloidosis, hereditary systemic 6, MIM# 620659; Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434; Amyloidosis, familial visceral, MIM# 105200

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

Bryony Thompson (Royal Melbourne Hospital)

gene: B2M was added gene: B2M was added to Renal Amyloidosis. Sources: Literature Mode of inheritance for gene: B2M was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: B2M were set to 22693999; 37223323; 24014031; 35575118; 32875920 Phenotypes for gene: B2M were set to variant ABeta2M amyloidosis MONDO:0017810 Review for gene: B2M was set to GREEN