A- or hypo-gammaglobulinaemia
Gene: CD79A
ONly 2 cases ever described so probably needs a very careful review before clinical reporting!Created: 6 Jan 2017, 3:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
agammaglobulinaemia
Comment when marking as ready: Two positve and one negative expert reviewers. Not associated with disease on Gen2PHen. Two homozygous LOF variants in publications.Created: 11 May 2016, 10:36 a.m.
This gene has been classified as Red List (Low Evidence).
Publications for CD79A were set to 10525050; 11920841
Phenotypes for gene CD79A were set to Agammaglobulinemia 3, 613501
This gene has been classified as Amber List (Moderate Evidence).
Publications for CD79A were set to 10525050; 11920841
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CD79A was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for CD79A 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 CD79A were set to 10525050 11920841
CD79A was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen