Ataxia and cerebellar anomalies - narrow panel
Gene: CSTB
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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_CCCCGCCCCGCGCreated: 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
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
Tag Q2_21_rating was removed from gene: CSTB.
Source Expert Review Green was added to CSTB. Source NHS GMS was added to CSTB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
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
Publications for gene: CSTB were set to
Gene: cstb has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: CSTB.
Rebecca Foulger: Comment on list classification
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