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Primary immunodeficiency

Gene: TOP2B

Green List (high evidence)

TOP2B (DNA topoisomerase II beta)
EnsemblGeneIds (GRCh38): ENSG00000077097
EnsemblGeneIds (GRCh37): ENSG00000077097
OMIM: 126431, Gene2Phenotype
TOP2B is in 3 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)

Green List (high evidence)

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)

I don't know

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

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

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TOP2B.

4 Mar 2022, Gel status: 3

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)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: top2b has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TOP2B.

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: top2b has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TOP2B were updated from 32048120; 32086639 to 31409799; 32086639; 32048120

28 Feb 2020, Gel status: 1

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