Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: IGHM

Green List (high evidence)

IGHM (immunoglobulin heavy constant mu)
EnsemblGeneIds (GRCh38): ENSG00000211899
EnsemblGeneIds (GRCh37): ENSG00000211899
OMIM: 147020, Gene2Phenotype
IGHM is in 3 panels

6 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Louise Daugherty (Genomics England Curator)

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): IGHM .PanelApp HGNC gene symbol check: IGHM . IUIS Disease: m heavy chain deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Severe bacterial infections, normal numbers of pro-B cells. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: IGHM, PanelApp HGNC gene symbol check: IGHM, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Agammaglobulinemias / Agammaglobulinemia
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IGHM, GRID_Gene_Symbol: IGHM, GRID_Transcript_ENS_Community submitted: ENST00000390559, GRID_Transcript_RefSeq: null, GRID_Transcript_ENS_used_on_Production: ENST00000390559
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
agammaglobulinaemia

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Two positive expert reviews. No association with disease in Gen2Phen. Five LOF variants reported in unrelated patients reported in the literature
Created: 11 May 2016, 8:51 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Agammaglobulinemia 1
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
  • Agammaglobulinemia 1, 601495
OMIM
147020
Clinvar variants
Variants in IGHM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: IGHM was added gene: IGHM was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHM were set to 8890099; 12370281 Phenotypes for gene: IGHM were set to Agammaglobulinemia 1; Agammaglobulinemia; Severe bacterial infections, normal numbers of pro-B cells; Predominantly Antibody Deficiencies; Agammaglobulinemia 1, 601495