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DDG2P

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are strong, monoallelic_X_hemizygous and gain of function (PMIDs: 27073347, 33245860, 34184986). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03095. The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are limited, monoallelic_X_heterozygous and gain of function (PMIDs: 33245860, 34871784, 37536293). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03096.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease FGF13-related neurodevelopmental disorder (hemizygous) is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:33245860). The DDG2P confidence category for the disease FGF13-related neurodevelopmental disorder (X-linked dominant) is limited. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID:33245860).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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
FGF13-related neurodevelopmental disorder (X-linked dominant); OMIM:301058.0; MONDO:0025353; FGF13-related neurodevelopmental disorder; FGF13-related neurodevelopmental disorder (hemizygous)

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

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
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FGF13-related neurodevelopmental disorder (X-linked dominant)
  • FGF13-related neurodevelopmental disorder (hemizygous)
OMIM
300070
Clinvar variants
Variants in FGF13
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene FGF13 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FGF13 was added gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGF13 were set to 33245860 Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous) Mode of pathogenicity for gene: FGF13 was set to Other