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Mitochondrial disorders v2.92 FXN_GAA Sarah Leigh commented on STR: FXN_GAA: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Mitochondrial disorders v2.89 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Mitochondrial disorders v2.59 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
Mitochondrial disorders v2.58 FXN Arina Puzriakova Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Mitochondrial disorders v2.57 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Classified STR: FXN_GAA as Red List (low evidence)
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Added comment: Comment on list classification: FXN_GAA is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Str: fxn_gaa has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.413 FXN Sarah Leigh Classified gene: FXN as Red List (low evidence)
Mitochondrial disorders v1.413 FXN Sarah Leigh Added comment: Comment on list classification: FXN is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.413 FXN Sarah Leigh Gene: fxn has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.388 FXN Anna de Burca reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance:
Mitochondrial disorders v1.384 FXN Carl Fratter reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance:
Mitochondrial disorders v1.359 SFXN4 Sarah Leigh Classified gene: SFXN4 as Green List (high evidence)
Mitochondrial disorders v1.359 SFXN4 Sarah Leigh Gene: sfxn4 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.293 SFXN4 Sarah Leigh Source NHS GMS was added to SFXN4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Classified gene: SFXN4 as Green List (high evidence)
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Gene: sfxn4 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.277 SFXN4 Ivone Leong Publications for gene: SFXN4 were set to
Mitochondrial disorders v1.276 SFXN4 Ivone Leong Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, 615578
Mitochondrial disorders v1.275 SFXN4 Ivone Leong Mode of inheritance for gene: SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.250 FXN Ivone Leong Classified gene: FXN as Green List (high evidence)
Mitochondrial disorders v1.250 FXN Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the provided expert reviews. FXN is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene; therefore, there is sufficient evidence to support the promotion of this gene to green status.
Mitochondrial disorders v1.250 FXN Ivone Leong Gene: fxn has been classified as Green List (High Evidence).
Mitochondrial disorders v1.249 FXN Ivone Leong Publications for gene: FXN were set to
Mitochondrial disorders v1.248 FXN Ivone Leong Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.90 FXN Eleanor Williams Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300
Mitochondrial disorders v1.74 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Mitochondrial disorders v1.73 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Marked STR: FXN_GAA as ready
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Mitochondrial disorders v1.72 FXN_GAA Arianna Tucci STR: FXN_GAA was added
STR: FXN_GAA was added to Mitochondrial disorders. 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
Mitochondrial disorders FXN Zornitza Stark reviewed gene: FXN