1. Panels
  2. Fetal anomalies
  3. TOP2B
Genes in panel
Prev Next

Fetal anomalies

Gene: TOP2B

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

This is on the Primary immunodeficiancy or monogenic inflammatory bowel disease panel. PMID:11152140 - case reprot of a 6 year old girl. Limb anomalies include: Limb anomalies included hypoplastic thenar areas with absent thenar creases, abnormal creases on the second fingers compatible with a short middle phalanx, fifth finger clinodactyly, recessed great toes, and partial 4-5 syndactyly of the toes. Radiographs showed hypoplastic first metatarsals, severe varus anomalies, triphalangeal thumbs, and brachymesophalangy V. These wouldn't be seen prenatally. PMID:11476068 - Bilateral felxion contractures of interphalangeal joints of thumbs, hypoplastic thumbs, skin syndactyly, clinodactyly. PMID:33459963 - thickening of the genitalia, hypospadias, right kidney dystrophy, and megalourethra. Interfamilial variability DESCRIBED. ? don't include? limb anomalies or genitourinary issues wouldn't be identified on scan. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296
OMIM
126431
Clinvar variants
Variants in TOP2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TOP2B was added gene: TOP2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red 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 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296