Search Phenotypes

Hypomyelinogenesis, congenital — Charolais ataxia; Progressive ataxia of Charolais

By comparing whole-genome sequenced data (from 2 affecteds and one control) in the candidate region (see Mapping section), and filtering resultant candidate variants, Duchesne et al. (2018) narrowed the field down to "a single substitution in exon 5 of KIF1C (chr19:27041449 C/T). For easier comprehension and since KIF1C gene in cattle is on the reverse strand, the substitution will be referred as KIF1C G>A in order to match with the transcr...

OMIA ID: 527Inheritance: From the published literature, Duchesne and Eggen (2005) concluded that this ...Characterised: YesYear: 2018