A- or hypo-gammaglobulinaemia
Gene: MYD88
Comment when marking as ready: One red, amber and green review, several publictions, but no association gen2phenCreated: 10 May 2016, 11:36 a.m.
Comment on mode of inheritance: Reported as homozygous and heterozygous loss of functionCreated: 10 May 2016, 11:28 a.m.
Although causing subtle abnormalities of B cell differentiation and antibody production, biallelic mutations of this gene are not linked to hypo-or a-gammaglobulinaemia to my knowledgeCreated: 19 Oct 2015, 1:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
recurrent pyogenic bacterial infection
Publications for MYD88 were set to 18669862; 23215570
This gene has been classified as Amber List (Moderate Evidence).
Publications for MYD88 were set to 18669862 23215570
This gene has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for MYD88 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MYD88 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for MYD88 were set to 18669862 23215570
Phenotypes for MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260; Macroglobulinemia, Waldenstrom, somatic, 153600
MYD88 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen