A- or hypo-gammaglobulinaemia

Gene: IGHM

Green List (high evidence)

IGHM (immunoglobulin heavy constant mu)
EnsemblGeneIds (GRCh38): ENSG00000211899
EnsemblGeneIds (GRCh37): ENSG00000211899
OMIM: 147020, Gene2Phenotype
IGHM is in 1 panel

3 reviews

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
  • Expert Review Green
Phenotypes
  • Agammaglobulinemia 1 601495
OMIM
147020
Clinvar variants
Variants in IGHM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for IGHM were set to 8890099; 12370281

11 May 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IGHM were set to Agammaglobulinemia 1 601495

11 May 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IGHM was changed to BIALLELIC, autosomal or pseudoautosomal

12 Oct 2015, Gel status: 0

Added New Source

Peter Arkwright (Royal Manchester Foundation Trust)

IGHM was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature