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.
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