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  3. FGF8
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Fetal anomalies

Gene: FGF8

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported with HPE phenotype and supportive functional data
Created: 13 Dec 2021, 6:09 a.m. | Last Modified: 13 Dec 2021, 6:09 a.m.
Panel Version: 0.1285

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly; MONDO:0016296

Publications

Created: 13 Dec 2021, 6:09 a.m.
Last Modified: 13 Dec 2021, 6:09 a.m.
Panel version: 0.1285

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

delayed or absent puberty is the key feature of this condition.
Micropenis and undescended testes have been reported for congenital IGD
Created: 13 Dec 2021, 4:11 a.m. | Last Modified: 13 Dec 2021, 4:11 a.m.
Panel Version: 0.1241

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism 6 with or without anosmia MIM#612702

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Dec 2021, 4:11 a.m.
Last Modified: 13 Dec 2021, 4:11 a.m.
Panel version: 0.1241

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf8 has been classified as Green List (High Evidence).

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia 612702 to Holoprosencephaly; MONDO:0016296

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGF8 were set to 20463092; 18596921; 24280688

13 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF8 were set to 20463092; 18596921; 24280688 Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702