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Severe Paediatric Disorders v1.77 FXN Sarah Leigh Phenotypes for gene: FXN were changed from Friedreich ataxia with retained reflexes, 229300; Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Severe Paediatric Disorders v0.17 FXN Louise Daugherty Mode of inheritance for gene FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 SFXN4 Louise Daugherty reviewed gene: SFXN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SFXN4 Louise Daugherty Publications for gene SFXN4 were updated from to 30847515
Severe Paediatric Disorders v0.11 FXN Louise Daugherty Publications for gene FXN were updated from to 30847515
Severe Paediatric Disorders v0.10 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.10 FXN Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Severe Paediatric Disorders v0.9 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.9 FXN Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Severe Paediatric Disorders v0.9 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.9 FXN Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Severe Paediatric Disorders v0.8 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.8 FXN Louise Daugherty Added phenotypes Friedreich ataxia with retained reflexes, 229300; Friedreich ataxia, 229300 for gene: FXN
Severe Paediatric Disorders v0.8 SFXN4 Louise Daugherty Mode of inheritance for gene SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.7 SFXN4 Louise Daugherty Source Next Generation Children Project was added to SFXN4.
Severe Paediatric Disorders v0.7 FXN Louise Daugherty Source Next Generation Children Project was added to FXN.
Severe Paediatric Disorders v0.5 SFXN4 Louise Daugherty Source Expert Review Green was added to SFXN4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 FXN Louise Daugherty Source Expert Review Green was added to FXN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SFXN4 Louise Daugherty gene: SFXN4 was added
gene: SFXN4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SFXN4 was set to
Severe Paediatric Disorders v0.4 FXN Louise Daugherty gene: FXN was added
gene: FXN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FXN was set to