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Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from STR: ATXN10_ATTCT.
Tag Q2_25_expert_review was removed from STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram Classified STR: ATXN10_ATTCT as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v8.66 ATXN10_ATTCT Achchuthan Shanmugasundram Str: atxn10_attct has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v8.3 ATXN10_ATTCT Sarah Leigh Tag Q2_25_expert_review tag was added to STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v7.27 ATXN10_ATTCT Sarah Leigh Tag watchlist was removed from STR: ATXN10_ATTCT.
Tag Q2_25_ promote_green tag was added to STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v7.27 ATXN10_ATTCT Sarah Leigh reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v7.27 ATXN10_ATTCT Sarah Leigh Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10, OMIM:603516 to Spinocerebellar ataxia 10, OMIM:603516; spinocerebellar ataxia type 10, MONDO:0011330
Ataxia and cerebellar anomalies - narrow panel v7.26 ATXN10_ATTCT Sarah Leigh Publications for STR: ATXN10_ATTCT were set to 12164725
Ataxia and cerebellar anomalies - narrow panel v2.295 ATXN10_ATTCT Eleanor Williams Tag for-review was removed from STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v2.289 ATXN10_ATTCT Louise Daugherty reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Ataxia and cerebellar anomalies - narrow panel v2.284 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v2.249 ATXN10_ATTCT Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Ataxia and cerebellar anomalies - narrow panel v2.248 ATXN10_ATTCT Arina Puzriakova Tag watchlist tag was added to STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v2.248 ATXN10 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN10.
Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Ataxia and cerebellar anomalies - narrow panel v2.248 ATXN10 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Ataxia and cerebellar anomalies - narrow panel v2.248 ATXN10 Arina Puzriakova Mode of inheritance for gene: ATXN10 was changed from Unknown to Other
Ataxia and cerebellar anomalies - narrow panel v2.247 ATXN10 Arina Puzriakova Phenotypes for gene: ATXN10 were changed from Spinocerebellarataxia10,603516 to Spinocerebellar ataxia 10, OMIM:603516
Ataxia and cerebellar anomalies - narrow panel v2.16 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.16 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.15 ATXN10_ATTCT Arina Puzriakova Tag for-review tag was added to STR: ATXN10_ATTCT.
Ataxia and cerebellar anomalies - narrow panel v0.14 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.14 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.13 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN10_ATTCT were set to 12164725
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.5 ATXN10 Ellen McDonagh gene: ATXN10 was added
gene: ATXN10 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATXN10 was set to Unknown
Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10,603516
Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments