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Hereditary neuropathy or pain disorder v6.150 FXN_GAA Sarah Leigh Tag Q3_24_promote_green was removed from STR: FXN_GAA.
Tag Q3_24_NHS_review was removed from STR: FXN_GAA.
Hereditary neuropathy or pain disorder v6.150 FXN_GAA Sarah Leigh Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy or pain disorder v6.150 FXN_GAA Sarah Leigh Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v6.149 FXN_GAA Sarah Leigh commented on STR: FXN_GAA: The rating of this STR has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval (added as per previous conversations with James Polke).
Hereditary neuropathy or pain disorder v6.145 FXN_GAA Sarah Leigh Tag STR tag was added to STR: FXN_GAA.
Hereditary neuropathy or pain disorder v6.145 FXN_GAA Sarah Leigh Tag Q3_24_promote_green tag was added to STR: FXN_GAA.
Tag Q3_24_NHS_review tag was added to STR: FXN_GAA.
Hereditary neuropathy or pain disorder v6.145 FXN_GAA Sarah Leigh Classified STR: FXN_GAA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.145 FXN_GAA Sarah Leigh Str: fxn_gaa has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.144 FXN_GAA Sarah Leigh STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia, OMIM:229300; Friedreich ataxia 1, MONDO:0100340
Review for STR: FXN_GAA was set to GREEN
Added comment: This STR has been added to Hereditary neuropathy or pain disorder panel, on the recommendation of James Polke (Rare & Inherited Disease Genomic Laboratory, NHS North Thames GLH). Biallelic (including compound heterozygous) FXN variants, both single nucleotide and repeat expansions, have been associated with Friedreich ataxia, OMIM:229300.
The STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.16 FXN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FXN.
Tag Q2_24_NHS_review was removed from gene: FXN.
Hereditary neuropathy or pain disorder v5.16 FXN Achchuthan Shanmugasundram reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.15 FXN Achchuthan Shanmugasundram Source Expert Review Green was added to FXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v4.11 FXN Sarah Leigh Tag Q2_24_promote_green tag was added to gene: FXN.
Tag Q2_24_NHS_review tag was added to gene: FXN.
Hereditary neuropathy or pain disorder v4.11 FXN Sarah Leigh reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21830088, 9737785, 8596916; Phenotypes: Friedreich ataxia, OMIM:229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.83 FXN Alexander Rossor edited their review of gene: FXN: Added comment: FA can present with a sensory neuropathy and should be included in the R78 panel. A missense may prompt testing for an expansion in the other allele.; Changed publications to: 20339857
Hereditary neuropathy or pain disorder v1.66 FXN Arina Puzriakova Phenotypes for gene: FXN were changed from Hereditary Neuropathies; Friedreich ataxia, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Hereditary neuropathy or pain disorder v1.65 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 or pain disorder v1.65 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 or pain disorder v1.64 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Hereditary neuropathy or pain disorder v0.97 FXN Louise Daugherty Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
Hereditary neuropathy or pain disorder v0.96 FXN Louise Daugherty Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty commented on gene: FXN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Rate as Green if STR Green Should be on ataxia panels
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty Classified gene: FXN as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty Gene: fxn has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: FXN was set to
Phenotypes for gene: FXN were set to Hereditary Neuropathies