Hereditary ataxia with onset in adulthood
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: 2.147
Comment on list classification: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR GreenCreated: 1 Aug 2019, 1:51 p.m. | Last Modified: 1 Aug 2019, 1:51 p.m.
Panel Version: 1.186
Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert listCreated: 21 Dec 2018, 1 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.
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
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
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 Hereditary ataxia - adult onset. 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