Hereditary ataxia

Gene: CSTB

Red List (low evidence)

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800

History Filter Activity

23 Mar 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

CSTB was added to Hereditary ataxiapanel. Sources: Expert Review

23 Mar 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

CSTB was created by arianna