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Early onset or syndromic epilepsy v1.191 FGF12 Rebecca Foulger Source Wessex and West Midlands GLH was added to FGF12.
Early onset or syndromic epilepsy v1.190 FGF12 Rebecca Foulger Source NHS GMS was added to FGF12.
Early onset or syndromic epilepsy v1.189 FGF12 Rebecca Foulger reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FGF12 Tracy Lester reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27872899, 27164707 ; Phenotypes: Epileptic encephalopathy, early infantile, 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Marked gene: FGF12 as ready
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Gene: fgf12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Classified gene: FGF12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Gene: fgf12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.825 FGF12 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.825 FGF12 Louise Daugherty Mode of inheritance for gene: FGF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.824 FGF12 Louise Daugherty Added comment: Comment on publications: Added publications that support the association with the phenotype suggested by external reviewer and recent publication PMID:29699863 that describes two unrelated cases, 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). Both patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing. The mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy.
Early onset or syndromic epilepsy v0.824 FGF12 Louise Daugherty Publications for gene: FGF12 were set to
Early onset or syndromic epilepsy v0.820 FGF12 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from external review and checked with OMIM
Early onset or syndromic epilepsy v0.820 FGF12 Louise Daugherty Phenotypes for gene: FGF12 were changed from to Epileptic encephalopathy, early infantile, 47, 617166
Early onset or syndromic epilepsy FGF12 Zornitza Stark reviewed gene: FGF12
Early onset or syndromic epilepsy FGF12 Sarah Leigh Added gene to panel