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  2. Periodic fever syndromes
  3. B2M
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Periodic fever syndromes

Gene: B2M

Red List (low evidence)
B2M (beta-2-microglobulin)
EnsemblGeneIds (GRCh38): ENSG00000166710
EnsemblGeneIds (GRCh37): ENSG00000166710
OMIM: 109700, Gene2Phenotype
B2M is in 4 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Only one reported family -await further evidence
Created: 2 Feb 2017, 1:57 p.m.
?Only one family reported
Created: 1 Feb 2017, 4:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Amyloidosis, familial visceral 105200

Publications

Created: 1 Feb 2017, 4:52 p.m.

Panel version: 0.62

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Amyloidosis, familial visceral 105200
OMIM
109700
Clinvar variants
Variants in B2M
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

1 Feb 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

B2M was created by agardham

1 Feb 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

B2M was added to Periodic fever syndromespanel. Sources: Literature,Radboud University Medical Center, Nijmegen