Primary immunodeficiencyGene: TOP2B
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:45 p.m. | Last Modified: 20 Oct 2020, 3:45 p.m.
Panel Version: 2.362
Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Created: 15 Apr 2020, 3:28 p.m. | Last Modified: 15 Apr 2020, 3:28 p.m.
Panel Version: 2.74
Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Created: 12 Apr 2020, 3:40 a.m. | Last Modified: 12 Apr 2020, 3:40 a.m.
Panel Version: 2.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies
Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Gene: top2b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TOP2B.
Gene: top2b has been classified as Green List (High Evidence).
Publications for gene TOP2B were updated from 32048120; 32086639 to 31409799; 32086639; 32048120
gene: TOP2B was added gene: TOP2B was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOP2B were set to 32048120; 32086639 Phenotypes for gene: TOP2B were set to Recurrent infections, facial dysmorphism, limb anomalies; Predominantly Antibody Deficiencies; Hoffman syndrome/TOP2B deficiency