Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TOP2BEnsemblGeneIds (GRCh38): ENSG00000077097
EnsemblGeneIds (GRCh37): ENSG00000077097
OMIM: 126431, Gene2Phenotype
TOP2B is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Phenotypes
Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies
Publications
Louise Daugherty (Genomics England Curator)
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- Phenotypes
-
- Recurrent infections, facial dysmorphism, limb anomalies
- Predominantly Antibody Deficiencies
- Hoffman syndrome/TOP2B deficiency
- OMIM
- 126431
- Clinvar variants
- Variants in TOP2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: TOP2B.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to TOP2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: top2b has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: TOP2B.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: top2b has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene TOP2B were updated from 32048120; 32086639 to 31409799; 32086639; 32048120
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)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