COVID-19 research
Gene: B2M
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Single kindred (2 patients) so far described but high confidence in pathomechanismCreated: 19 Jun 2018, 5:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): B2M .PanelApp HGNC gene symbol check: B2M . IUIS Disease: MHC class I deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c . IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined ImmunodeficiencyCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external review commentCreated: 20 Jun 2018, 2:52 p.m.
Reviewed and decided to keep amber until more info on gene and disease association. Currently only 2 sibs reported in the literature last report in 2015 PMID:25702838Created: 11 May 2018, 2:04 p.m.
Comment on phenotypes: added phenotype from OMIM MIMd and Orphanet : Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.Created: 11 May 2018, 1:46 p.m.
Comment on publications: Added publications to support the PID phenotype, PMID: 4186801 (2 sibs affected) and another but unrelated family PMID:25702838 (2 sibs affected)Created: 11 May 2018, 1:45 p.m.
Comment on mode of inheritance: changed MOI to Biallelic as it it the Immunodeficiency 43 phenotype and not Amyloidosis, familial visceral phenotype (AD) that is repreented on this panelCreated: 11 May 2018, 1:40 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: B2M, GRID_Gene_Symbol: B2M, GRID_Transcript_ENS_Community submitted: ENST00000558401, GRID_Transcript_RefSeq: NM_004048.2, GRID_Transcript_ENS_used_on_Production: ENST00000558401Created: 17 Apr 2018, 12:12 p.m.
gene: B2M was added gene: B2M was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: B2M was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B2M were set to 25702838; 4186801 Phenotypes for gene: B2M were set to Immunodeficiency 43,241600; Immunodeficiency by defective expression of HLA class 1; Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c; Immunodeficiencies affecting cellular and humoral immunity