Childhood onset dystonia, chorea or related movement disorder
Gene: CSTBCopied from Arianna Tucci (Genomics England) review on 100K Early dystonia panel (27 Mar 2017):
Biallelic mutations can cause an early onset neurodegenerative disorder characterized by myoclonus, epilepsy, ataxia which could be in differential with some dystonia genes. Also severe dyskinesia has been described (26843564). 90% of the pathogenic alleles consist of a 12bp repeat expansion, but missense mutations have also been described, normally would be compound heterozygous with the repeat expansionCreated: 9 Nov 2021, 3:09 p.m. | Last Modified: 9 Nov 2021, 3:09 p.m.
Panel Version: 1.182
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
GMS review is requested in regard to Zornitza Stark's review; that the phenotype associated with CSTB - Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800, is not relevant to this panel.Created: 19 May 2021, 10:42 a.m. | Last Modified: 19 May 2021, 10:42 a.m.
Panel Version: 1.114
Progressive myoclonic epilepsy rather than dystonia/chorea.Created: 5 Sep 2020, 4:51 a.m. | Last Modified: 5 Sep 2020, 4:51 a.m.
Panel Version: 1.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tag Q2_21_phenotype was removed from gene: CSTB. Tag Q2_21_expert_review was removed from gene: CSTB.
Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Tag Q2_21_expert_review tag was added to gene: CSTB.
Tag Q2_21_phenotype tag was added to gene: CSTB.
Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698
Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800
Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800
Source PanelApp was added to CSTB. Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 for gene: CSTB Publications for gene CSTB were changed from to 26843564
gene: CSTB was added gene: CSTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CSTB was set to