Severe microcephaly
Gene: TOP3A
TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Sarah Leigh (Genomics England Curator)
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
-
- NHS GMS
- 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
29 Jul 2019, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TOP3A.
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