Skeletal dysplasia
Gene: FGF8EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: 29 Sep 2021, 11:13 p.m. | Last Modified: 29 Sep 2021, 11:13 p.m.
Panel Version: 0.123
Phenotypes
Hypoplastic femurs and pelvis, MIM#619545
Publications
Dean Phelan (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.
- Tags
- OMIM
- 600483
- Clinvar variants
- Variants in FGF8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Congenital Heart Defect
- Mendeliome
- Pituitary hormone deficiency
- Callosome
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgf8 has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FGF8 were set to 24569166
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgf8 has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: FGF8.
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 Skeletal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: FGF8 was set to Unknown Publications for gene: FGF8 were set to 24569166 Phenotypes for gene: FGF8 were set to Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.