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Prepair 1000+

Gene: MYD88

Green List (high evidence)

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

1 review

Melanie Marty (Victorian Clinical Genetics Services)

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: 3 Apr 2025, 5:42 a.m. | Last Modified: 3 Apr 2025, 5:42 a.m.
Panel Version: 1.1822

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 68, MIM# 612260

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 68, MIM# 612260
OMIM
602170
Clinvar variants
Variants in MYD88
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myd88 has been classified as Green List (High Evidence).

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYD88 were changed from Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) to Immunodeficiency 68, MIM# 612260

24 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYD88 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYD88 was added gene: MYD88 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)