A- or hypo-gammaglobulinaemiaGene: LRRC8A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment when marking as ready: Three negative expert reviews. No disease association on Gen2Phen. LRRC8A truncated as a result of a reciprocal translocation in one patien in publication
Created: 11 May 2016, 9:59 a.m.
Mode of inheritance for LRRC8A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
LRRC8A was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen