Hereditary ataxia
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: 1.298
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 10:32 a.m.
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 5 Dec 2018, 10:31 a.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. Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG. 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
GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470. Rating Changed from Green List (high evidence) to Green List (high evidence)
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 Hereditary ataxia. Sources: Expert Review Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal