Fetal anomalies
Gene: TOP3A

TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 2:52 p.m.

New gene:disorder association added to DDG2P in March 2019: Bloom Syndrome like Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Added to Fetal anomalies panel awaiting clinical review.
Created: 22 Apr 2019, 8:06 p.m.

Created: 22 Apr 2019, 8:06 p.m.

Panel version: 0.225

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

Bloom Syndrome like Disorder

OMIM

601243

Clinvar variants

Variants in TOP3A

Penetrance

None

Publications

30193137

Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TOP3A was added gene: TOP3A was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 30193137 Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder

Fetal anomalies Gene: TOP3A