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| Ataxia and cerebellar anomalies - narrow panel v2.288 | CSTB_CCCCGCCCCGCG | Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.284 | CSTB_CCCCGCCCCGCG |
Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG. |
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| Ataxia and cerebellar anomalies - narrow panel v2.88 | CSTB_CCCCGCCCCGCG | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.87 | CSTB_CCCCGCCCCGCG | Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.87 | CSTB | Sarah Leigh edited their review of gene: CSTB: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in at least four unrelated cases. Some cases are compound heterozygous with STR: CSTB_CCCCGCCCCGCG; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.87 | CSTB_CCCCGCCCCGCG | Sarah Leigh Publications for STR: CSTB_CCCCGCCCCGCG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.25 | CSTB_CCCCGCCCCGCG | Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.25 | CSTB_CCCCGCCCCGCG | Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.24 | CSTB_CCCCGCCCCGCG |
Louise Daugherty 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 Added comment: Source PanelApp panels : Hereditary ataxia v1.150 Sources: Expert list |
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