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  3. TOP2B
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Predominantly Antibody Deficiency

Gene: TOP2B

Green List (high evidence)
TOP2B (DNA topoisomerase II beta)
EnsemblGeneIds (GRCh38): ENSG00000077097
EnsemblGeneIds (GRCh37): ENSG00000077097
OMIM: 126431, Gene2Phenotype
TOP2B is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Expert list
Created: 4 Apr 2020, 3:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies

Publications

Created: 4 Apr 2020, 3:56 a.m.

Panel version: 0.92

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
  • Antibody deficiency
  • Recurrent infections
  • Facial dysmorphism
  • Limb anomalies
OMIM
126431
Clinvar variants
Variants in TOP2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOP2B were changed from Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOP2B was added gene: TOP2B was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOP2B were set to 31409799 Phenotypes for gene: TOP2B were set to Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies Review for gene: TOP2B was set to GREEN