Holoprosencephaly and septo-optic dysplasia
Gene: FGF8

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

2 reviews

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

PMID: 34433009 - two unrelated families with de novo heterozygous tandem duplications (494kb) including the FGF8 gene (encompasses multiple genes). Functional studies of the duplications in patient cells and mice (CRISPR-Cas9 editing) showed ectopic chromatin contacts and increased FGF8 expression. The transgenic mice exhibited proximal shortening of the limbs resembling the human phenotype.
Created: 6 Sep 2021, 5:45 a.m. | Last Modified: 6 Sep 2021, 5:45 a.m.

Panel Version: 0.9081

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Femoral hypoplasia

Publications

PMID: 34433009

Created: 6 Sep 2021, 5:45 a.m.
Last Modified: 6 Sep 2021, 5:45 a.m.
Panel version: Imported from Mendeliome panel version 0.9081

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with hypogonadotrophic hypogonadism but at least 4 unrelated families reported with HPE phenotype and supportive functional data.
Created: 24 Apr 2021, 8:02 a.m. | Last Modified: 24 Apr 2021, 8:02 a.m.

Panel Version: 0.61

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly; MONDO:0016296

Publications

Created: 24 Apr 2021, 8:02 a.m.
Last Modified: 24 Apr 2021, 8:02 a.m.
Panel version: 0.61

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Holoprosencephaly
MONDO:0016296

OMIM

600483

Clinvar variants

Variants in FGF8

Penetrance

None

Publications

Panels with this gene