Defects of intrinsic and innate immunity
Gene: MYD88

MYD88 (myeloid differentiation primary response 88)
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed. At least 7 families and a mouse model.
Created: 14 May 2022, 7:49 a.m. | Last Modified: 14 May 2022, 7:49 a.m.

Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 68, MIM# 612260

Publications

Created: 14 May 2022, 7:49 a.m.
Last Modified: 14 May 2022, 7:49 a.m.
Panel version: 0.106

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 68, MIM# 612260

OMIM

602170

Clinvar variants

Variants in MYD88

Penetrance

None

Publications

Panels with this gene