Severe microcephaly

Gene: TOP3A

Green List (high evidence)

TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with phenotype in OMIM or in Gen2Phen. At least six variants identified in at least five unrelated cases, together with supportive in vitro studies.
Created: 28 Aug 2018, 11:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bloom Syndrome-like Disorder

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bloom Syndrome-like Disorder
OMIM
601243
Clinvar variants
Variants in TOP3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: top3a has been classified as Green List (High Evidence).

28 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TOP3A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum panel. Sources: Literature

28 Aug 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TOP3A was created by Sarah Leigh