Ataxia and cerebellar anomalies - narrow panel
STR: CSTB_CCCCGCCCCGCGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:56 p.m. | Last Modified: 15 Mar 2022, 12:56 p.m.
Panel Version: 2.288
Some cases are compound heterozygous with other CSTB variants (PMID: 8596935;15483648;9012407;9054946;9090386;11571333;9342192;15329070)Created: 13 Apr 2021, 3:09 p.m. | Last Modified: 13 Apr 2021, 3:09 p.m.
Panel Version: 2.87
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Phenotypes for STR: CSTB_CCCCGCCCCGCG 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 STR: CSTB_CCCCGCCCCGCG were set to
Louise Daugherty: Source PanelApp panels : Hered
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: CSTB_CCCCGCCCCGCG. Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN