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BabyScreen+ newborn screening v1.114 MYD88 Tommy Li Added phenotypes Immunodeficiency 68, MIM# 612260 for gene: MYD88
Publications for gene MYD88 were updated from 18669862; 20538326; 31301515 to 18669862; 31301515; 20538326
BabyScreen+ newborn screening v0.2034 MYD88 Zornitza Stark Marked gene: MYD88 as ready
BabyScreen+ newborn screening v0.2034 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2034 MYD88 Zornitza Stark Classified gene: MYD88 as Green List (high evidence)
BabyScreen+ newborn screening v0.2034 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2033 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: MYD88.
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYD88 were set to 18669862; 20538326; 31301515
Phenotypes for gene: MYD88 were set to Immunodeficiency 68, MIM# 612260
Review for gene: MYD88 was set to GREEN
Added comment: 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.

Treatment: Prophylactic antibiotic treatment, pneumococcal, meningococcal, haemophilus influenzae vaccines, and immunoglobulin replacement.

Non-genetic confirmatory testing: toll-like receptor function
Sources: Expert list