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  3. FGF13
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Early onset or syndromic epilepsy

Gene: FGF13

Green List (high evidence)
FGF13 (fibroblast growth factor 13)
EnsemblGeneIds (GRCh38): ENSG00000129682
EnsemblGeneIds (GRCh37): ENSG00000129682
OMIM: 300070, Gene2Phenotype
FGF13 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The 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
Created: 3 Mar 2022, 5:34 p.m.
Last Modified: 3 Mar 2022, 5:34 p.m.
Panel version: 2.491

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 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

Created: 22 Jan 2021, 4:14 p.m.

Panel version: 2.261

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy
  • Intellectual disability
  • Infantile-onset seizures
OMIM
300070
Clinvar variants
Variants in FGF13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: FGF13.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to FGF13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fgf13 has been classified as Amber List (Moderate Evidence).

22 Jan 2021, Gel status: 1

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

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

22 Jan 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

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