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  3. FGF8
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Congenital Heart Defect

Gene: FGF8

Amber List (moderate evidence)
FGF8 (fibroblast growth factor 8)
EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported but extensive functional data. MODERATE by ClinGen.
Sources: Expert list
Created: 5 Dec 2024, 1:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease MONDO:0005453, FGF8-related

Publications

Created: 5 Dec 2024, 1:34 p.m.

Panel version: 0.422

History Filter Activity

5 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf8 has been classified as Amber List (Moderate Evidence).

5 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf8 has been classified as Amber List (Moderate Evidence).

5 Dec 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGF8 was added gene: FGF8 was added to Congenital Heart Defect. Sources: Expert list Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF8 were set to 32664970; 7768185; 32664970; 10603341; 19509466; 9462741; 10603341; 12223415 Phenotypes for gene: FGF8 were set to Congenital heart disease MONDO:0005453, FGF8-related Review for gene: FGF8 was set to AMBER