A- or hypo-gammaglobulinaemia
Gene: CD79B
only 2 cases described so caution requiredCreated: 6 Jan 2017, 3:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Two positive expert reviews and one negative. No association with disease on Gen2Phen. Two homozygous LOF variants reported in the literatureCreated: 11 May 2016, 9:34 a.m.
This gene has been classified as Red List (Low Evidence).
Publications for CD79B were set to 17675462; 17709424
Phenotypes for gene CD79B were set to Agammaglobulinemia 6, 612692
This gene has been classified as Red List (Low Evidence).
Publications for CD79B were set to 17675462; 17709424
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CD79B were set to Agammaglobulinemia 6, 612692
Mode of inheritance for CD79B was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for CD79B was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for CD79B were set to 17675462 17709424
CD79B was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen