Early onset or syndromic epilepsy
Gene: FGF13The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient number of unrelated cases with relevant phenotype (early-onset epilepsy represents the main feature of the disorder), supported by functional data.Created: 22 Jan 2021, 4:16 p.m. | Last Modified: 22 Jan 2021, 4:16 p.m.
Panel Version: 2.263
- PMID: 33245860 (2021) - Three variants (c.31C>T, c.41G>C, c.32G>C) identified by WES/WGS in seven individuals from five unrelated families who presented with severe infantile-onset seizures and severe-to-profound ID. Supportive functional data indicating variants impair long-term inactivation of voltage-gated sodium channels while retaining pro-excitatory properties of A isoform - consistent with the epileptic potential of FGF13 variants
Sources: LiteratureCreated: 22 Jan 2021, 4:14 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Developmental and epileptic encephalopathy; Intellectual disability; Infantile-onset seizures
Publications
Mode of pathogenicity
Other
Tag for-review was removed from gene: FGF13.
Source Expert Review Green was added to FGF13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: fgf13 has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: FGF13 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
gene: FGF13 was added gene: FGF13 was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: FGF13. Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FGF13 were set to 33245860 Phenotypes for gene: FGF13 were set to Developmental and epileptic encephalopathy; Intellectual disability; Infantile-onset seizures Mode of pathogenicity for gene: FGF13 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FGF13 was set to GREEN