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Early onset or syndromic epilepsy v2.319 FBXL4 Sarah Leigh Added comment: Comment on phenotypes: Seizures
Early onset or syndromic epilepsy v2.319 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; Seizures to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Early onset or syndromic epilepsy v1.191 FBXL4 Rebecca Foulger Source Wessex and West Midlands GLH was added to FBXL4.
Early onset or syndromic epilepsy v1.190 FBXL4 Rebecca Foulger Source NHS GMS was added to FBXL4.
Early onset or syndromic epilepsy v1.189 FBXL4 Rebecca Foulger reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FBXL4 Tracy Lester reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993193; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.828 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; Seizures
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Marked gene: FBXL4 as ready
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Gene: fbxl4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Classified gene: FBXL4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Gene: fbxl4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.822 FBXL4 Louise Daugherty Publications for gene: FBXL4 were set to 23993193; 23993194; 25868664; 26404457; 27182039; 27290639; 27099744; 27743463
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty edited their review of gene: FBXL4: Added comment: FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome, seizures are part of the clinical phenotype and can start at age four months (Dai et al 2017 PMID: 27743463). Seizure types reported include complex partial seizures (Baroy et al 2016 PMID:27182039) and absence and generalized seizures (Gai et al 2013 PMID:23993194). The clinical manifestations of FBXL4-Related mtDNA Depletion Syndrome with seizures occurs at a frequency of approximately 33% of cases (Almannai et al 2017 PMID:28383868); Changed rating: GREEN
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty Added comment: Comment on publications: FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals to date. Added publications suggested to support upgrading of the gene to Green.
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty Publications for gene: FBXL4 were set to
Early onset or syndromic epilepsy v0.815 FBXL4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype and MIMid
Early onset or syndromic epilepsy v0.815 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
Early onset or syndromic epilepsy v0.813 FBXL4 Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external review and checked with PMID
Early onset or syndromic epilepsy v0.813 FBXL4 Louise Daugherty Mode of inheritance for gene: FBXL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy FBXL4 Zornitza Stark reviewed gene: FBXL4
Early onset or syndromic epilepsy FBXL4 Sarah Leigh Added gene to panel