Amyloidosis
Gene: B2M
4 probands/families with amyloidosis and supporting in vitro functional studies.
Sources: LiteratureCreated: 10 Sep 2024, 11:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
variant ABeta2M amyloidosis MONDO:0017810
Publications
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
Gene: b2m has been classified as Green List (High Evidence).
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