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Newborns main panel

Gene: TOP2B

Amber List (moderate evidence)
TOP2B (DNA topoisomerase II beta)
EnsemblGeneIds (GRCh38): ENSG00000077097
EnsemblGeneIds (GRCh37): ENSG00000077097
OMIM: 126431, Gene2Phenotype
TOP2B is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
5 families - 10 cases - PMID: 33459963, PMID: 37068767 ( Moderate on ClinGen
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
OMIM
126431
Clinvar variants
Variants in TOP2B
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TOP2B. Added phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations for gene: TOP2B Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TOP2B. Added phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations for gene: TOP2B Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TOP2B. Added phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations for gene: TOP2B Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TOP2B. Mode of pathogenicity for gene TOP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations for gene: TOP2B Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TOP2B was added gene: TOP2B was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown