CENPF plays an important role in overall cell mechanisms, especially in cell division. Two disease-causing variants in the gene can impair this role and can therefore have diverse clinical consequences, particularly on organ and general development. The disease-causing variants can be identified via molecular genetic testing either by directly examining CENPF or via panel-, exome- or genome sequencing. Sometimes it is not evident to determine whether a variant is causal or not.
CENPF