Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CSTB

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in at least four unrelated cases. Some cases are compound heterozygous with STR: CSTB_CCCCGCCCCGCG
Created: 13 Apr 2021, 3:07 p.m. | Last Modified: 13 Apr 2021, 3:07 p.m.
Panel Version: 2.87
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 13 Apr 2021, 2:12 p.m. | Last Modified: 13 Apr 2021, 2:12 p.m.
Panel Version: 2.85

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

13 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698

13 Apr 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CSTB were set to

13 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cstb has been classified as Amber List (Moderate Evidence).

13 Apr 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CSTB.

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