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  2. Predominantly Antibody Deficiency
  3. IGHM
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Predominantly Antibody Deficiency

Gene: IGHM

Green List (high evidence)
IGHM (immunoglobulin heavy constant mu)
EnsemblGeneIds (GRCh38): ENSG00000211899
EnsemblGeneIds (GRCh37): ENSG00000211899
OMIM: 147020, Gene2Phenotype
IGHM is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported; please note a 40kb deletion as well as SNVs.
Sources: Expert list
Created: 8 Jan 2020, 1:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinemia 1, MIM# 601495

Publications

Created: 8 Jan 2020, 1:15 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Agammaglobulinemia 1, MIM# 601495
OMIM
147020
Clinvar variants
Variants in IGHM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ighm has been classified as Green List (High Evidence).

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ighm has been classified as Green List (High Evidence).

8 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGHM was added gene: IGHM was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHM were set to 12370281; 8890099 Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, MIM# 601495 Review for gene: IGHM was set to GREEN