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Hereditary ataxia with onset in adulthood v4.26 FGF14_GAA Eleanor Williams Tag Q1_23_promote_green was removed from STR: FGF14_GAA.
Tag Q1_23_expert_review was removed from STR: FGF14_GAA.
Tag Q1_23_NHS_review was removed from STR: FGF14_GAA.
Tag watchlist tag was added to STR: FGF14_GAA.
Hereditary ataxia with onset in adulthood v4.26 FGF14_GAA Eleanor Williams commented on STR: FGF14_GAA: After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber.

Comments from review:
Agree that the expansion is likely disease causing. However only a small number of cases have been used to define the number of repeats that could be considered pathogenic. Would recommend that more cases should be identified to better define the pathogenic repeat lengths of this STR. Perhaps study in 100,000 Genomes and GMS data would provide additional cases.

Agree that alleles >250 rpts are of interest and those >300 likely to be diagnostic but concerned that Expansion Hunter will not be able to provide accurate sizing beyond a threshold well below this (~100 repeats). See Supplementary figure S2 of PMID 36493768 for an illustration of this. Can ExpansionHunterDeNovo do better using paired IRRs (PMID PMID: 32345345), or can Expansion Hunter be adapted to factor-in paired IRRs to give a better prediction of expansion size? PCR based assays will also be essential for confirmation and sizing of any repeats detected, not currently available diagnostically to our knowledge.
Hereditary ataxia with onset in adulthood v4.22 FGF14_GAA Sarah Leigh Phenotypes for STR: FGF14_GAA were changed from Late-onset cerebellar ataxia; Episodic features; Nystagmus; Spinocerebellar ataxia 27B, late-onset, OMIM:620174 to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174
Hereditary ataxia with onset in adulthood v4.21 FGF14_GAA Sarah Leigh Publications for STR: FGF14_GAA were set to 36516086; 36493768
Hereditary ataxia with onset in adulthood v4.12 FGF14_GAA Eleanor Williams changed review comment from: Comment on list classification: Promoting to amber but there is sufficient evidence to promote to green following GMS review, and configuration in the Rare Disease analysis pipeline.; to: Comment on list classification: Promoting to amber but there is sufficient evidence to promote to green following GMS review, and configuration in the Rare Disease analysis pipeline. GMS expert review is required to confirm that the normal and pathogenic thresholds set are appropriate.
Hereditary ataxia with onset in adulthood v3.15 FGF14_GAA Eleanor Williams Phenotypes for STR: FGF14_GAA were changed from Late-onset cerebellar ataxia; Episodic features; Nystagmus to Late-onset cerebellar ataxia; Episodic features; Nystagmus; Spinocerebellar ataxia 27B, late-onset, OMIM:620174
Hereditary ataxia with onset in adulthood v3.14 FGF14_GAA Eleanor Williams Publications for STR: FGF14_GAA were set to PMID: 36516086
Hereditary ataxia with onset in adulthood v3.13 FGF14_GAA Eleanor Williams Classified STR: FGF14_GAA as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v3.13 FGF14_GAA Eleanor Williams Added comment: Comment on list classification: Promoting to amber but there is sufficient evidence to promote to green following GMS review, and configuration in the Rare Disease analysis pipeline.
Hereditary ataxia with onset in adulthood v3.13 FGF14_GAA Eleanor Williams Str: fgf14_gaa has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v3.12 FGF14_GAA Eleanor Williams Tag Q1_23_promote_green tag was added to STR: FGF14_GAA.
Tag Q1_23_expert_review tag was added to STR: FGF14_GAA.
Tag Q1_23_NHS_review tag was added to STR: FGF14_GAA.
Hereditary ataxia with onset in adulthood v3.12 FGF14_GAA Eleanor Williams reviewed STR: FGF14_GAA: Rating: ; Mode of pathogenicity: None; Publications: 36516086, 36493768; Phenotypes: Spinocerebellar ataxia 27B, late-onset, OMIM:620174; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia with onset in adulthood v3.12 FGF14_GAA Philip Twiss STR: FGF14_GAA was added
STR: FGF14_GAA was added to Hereditary ataxia - adult onset. Sources: Literature
Mode of inheritance for STR: FGF14_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FGF14_GAA were set to PMID: 36516086
Phenotypes for STR: FGF14_GAA were set to Late-onset cerebellar ataxia; Episodic features; Nystagmus
Penetrance for STR: FGF14_GAA were set to Complete
Review for STR: FGF14_GAA was set to AMBER
Added comment: New STR disease loci reported to account for significant number of dominant late onset ataxia cases. Not current standard of care therefore no diagnostic accredited PCR assays available currently in UK.
Sources: Literature