| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset or syndromic epilepsy v2.491 | FGF13 | Sarah Leigh Tag for-review was removed from gene: FGF13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.491 | FGF13 | Sarah Leigh commented on gene: FGF13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.490 | FGF13 |
Sarah Leigh Source Expert Review Green was added to FGF13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.263 | FGF13 | Arina Puzriakova Classified gene: FGF13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.263 | FGF13 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.263 | FGF13 | Arina Puzriakova Gene: fgf13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.262 | FGF13 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.261 | FGF13 | Arina Puzriakova edited their review of gene: FGF13: Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.261 | FGF13 |
Arina Puzriakova 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 Added comment: - 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: Literature |
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