Severe microcephalyGene: RMI1
Not associated with phenotype in OMIM or in Gen2Phen. A biallelic truncating variant identified in two cousins from a consanguineous Turkish family, with microcephalic dwarfism, similar to carries of TOP3A variants in the same publication (PMID 30057030).
Created: 28 Aug 2018, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bloom Syndrome-like Disorder
Gene: rmi1 has been classified as Amber List (Moderate Evidence).
RMI1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum panel. Sources: Literature
RMI1 was created by Sarah Leigh