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Hereditary ataxia v1.150 CSTB_CCCCGCCCCGCG Louise Daugherty 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)
Hereditary ataxia v1.145 CSTB_CCCCGCCCCGCG Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Hereditary ataxia v1.143 CSTB_CCCCGCCCCGCG Louise Daugherty Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Marked STR: CSTB_CCCCGCCCCGCG as ready
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia v1.133 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia v1.132 CSTB_CCCCGCCCCGCG Arianna Tucci 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
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review