Severe microcephalyGene: TOP3A
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 Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
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
Bloom Syndrome-like Disorder
Source NHS GMS was added to TOP3A.
Gene: top3a has been classified as Green List (High Evidence).
TOP3A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum panel. Sources: Literature
TOP3A was created by Sarah Leigh