Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CSTB

Red List (low evidence)

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 16 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Does the Red rating relate to the common dodecamer repeat? If so, please note missense variants have also been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.
Created: 12 Sep 2020, 2:59 a.m. | Last Modified: 12 Sep 2020, 2:59 a.m.
Panel Version: 2.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CSTB was added gene: CSTB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800