Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: B2M

Comment on mode of inheritance: Biallelic mode of inheritance is correct for Immunodeficiency 43. OMIM also has an entry for ?Amyloidosis, familial visceral, OMIM:105200 - Autosomal dominant but this phenotype is not relevant to this panel.

Created: 23 Sep 2021, 1:43 p.m. | Last Modified: 23 Sep 2021, 1:43 p.m.

Panel Version: 2.468

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.

Created: 14 Oct 2020, 12:25 p.m. | Last Modified: 14 Oct 2020, 12:25 p.m.

Panel Version: 2.223

The following PubMed IDs were added to gene B2M (OMIM gene MIM#109700): 4186801;25702838. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.

Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.

Panel Version: 2.208

Publications

• 4186801
• 25702838

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

Single kindred (2 patients) so far described but high confidence in pathomechanism

Created: 19 Jun 2018, 5:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 25702838

Green List (high evidence)

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 Immunodeficiency

Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: Changed Amber to Green from external review comment

Created: 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:25702838

Created: 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 panel

Created: 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: ENST00000558401

Created: 17 Apr 2018, 12:12 p.m.