Hereditary ataxiaGene: CSTB
The disease is caused by both single nucleotide changes/small indels and expansion of the dodecamer CCCCGCCCCGCG in the 5-prime untranslated region of the cystatin B gene
Created: 23 Mar 2017, 4:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
CSTB was added to Hereditary ataxiapanel. Sources: Expert Review
CSTB was created by arianna