Severe microcephalyGene: TOP3A
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
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