Early onset or syndromic epilepsy
STR: CSTB_CCCCGCCCCGCGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:57 p.m. | Last Modified: 15 Mar 2022, 12:57 p.m.
Panel Version: 2.498
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green. Evidence for inclusion: PMID:9806543. Suggested mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Review comments: None.Created: 6 Aug 2019, 9:17 p.m. | Last Modified: 6 Aug 2019, 9:17 p.m.
Panel Version: 1.191
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert listCreated: 5 Dec 2018, 5:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Rating Changed from Green List (high evidence) to Red List (low evidence)
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
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Arianna Tucci: Added to the panel following t
Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal