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Hereditary neuropathy or pain disorder v6.148 FAH Sarah Leigh Tag Q3_24_promote_green was removed from gene: FAH.
Tag Q3_24_NHS_review was removed from gene: FAH.
Hereditary neuropathy or pain disorder v6.148 FAH Sarah Leigh commented on gene: FAH: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v6.147 FAH Sarah Leigh Source Expert Review Green was added to FAH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.90 FAH Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FAH.
Tag Q3_24_NHS_review tag was added to gene: FAH.
Hereditary neuropathy or pain disorder v6.90 FAH Sarah Leigh reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.90 FAH Sarah Leigh Phenotypes for gene: FAH were changed from Tyrosinemia, type I, OMIM:276700 to Tyrosinemia, type I, OMIM:276700; tyrosinemia type I, MONDO:0010161
Hereditary neuropathy or pain disorder v6.89 FAH Sarah Leigh Phenotypes for gene: FAH were changed from Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700 to Tyrosinemia, type I, OMIM:276700
Hereditary neuropathy or pain disorder v6.85 FAH Sarah Leigh Publications for gene: FAH were set to
Hereditary neuropathy or pain disorder v5.19 FAH Alexander Rossor edited their review of gene: FAH: Added comment: Complex phneotypes now included in R78, reference of 25 patients inlcuded; Changed publications to: 33598652
Hereditary neuropathy or pain disorder v0.53 FAH Louise Daugherty commented on gene: FAH: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Tyrosinemia, acute episodes of neuropathy similar to AIP
Hereditary neuropathy or pain disorder v0.53 FAH Louise Daugherty Classified gene: FAH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.53 FAH 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 v0.53 FAH Louise Daugherty Gene: fah has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 FAH Ellen McDonagh gene: FAH was added
gene: FAH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700