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Hereditary neuropathy v1.441 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.434 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.429 FXN_GAA Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Hereditary neuropathy v1.428 FXN Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI to 'Biallelic' as monoallelic variants have not been associated with disease. Patients either harbour a homozygous expansion or are compound heterozygous for an expansion and a point mutation.
Hereditary neuropathy v1.428 FXN Arina Puzriakova Mode of inheritance for gene: FXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.427 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Hereditary neuropathy v1.385 FXN Sarah Leigh Phenotypes for gene: FXN were changed from Hereditary Neuropathies; Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Hereditary neuropathy v1.366 FXN Louise Daugherty Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
Hereditary neuropathy v1.355 FXN Louise Daugherty Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.353 FXN Louise Daugherty Source Expert Review Green was added to FXN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.352 FXN Louise Daugherty edited their review of gene: FXN: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.320 FXN_GAA Louise Daugherty reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.80 FXN Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FXN Louise Daugherty commented on gene: FXN: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.79 FXN Alexander Rossor edited their review of gene: FXN: Added comment: Causes a neuropathy with ataxia; Changed rating: GREEN
Hereditary neuropathy v1.63 FXN Louise Daugherty commented on gene: FXN: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.60 FXN Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: FXN
Hereditary neuropathy v1.58 FXN Natalie Forrester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.56 FXN Louise Daugherty Source South West GLH was added to FXN.
Hereditary neuropathy v1.55 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FXN James Polke reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.51 FXN Louise Daugherty Source NHS GMS was added to FXN.
Hereditary neuropathy v1.50 FXN Louise Daugherty Source London North GLH was added to FXN.
Hereditary neuropathy v1.44 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Hereditary neuropathy v1.37 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Marked STR: FXN_GAA as ready
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.27 FXN_GAA Arianna Tucci STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary neuropathy. Sources: Expert Review
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Review for STR: FXN_GAA was set to GREEN
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