A- or hypo-gammaglobulinaemia
Gene: IGHM

IGHM (immunoglobulin heavy constant mu)
EnsemblGeneIds (GRCh38): ENSG00000211899
EnsemblGeneIds (GRCh37): ENSG00000211899
OMIM: 147020, Gene2Phenotype
IGHM is in 2 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
agammaglobulinaemia

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

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.

Created: 11 May 2016, 8:51 a.m.

Panel version: 0.103

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