IUGR and IGF abnormalities
Gene: FGF8EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 8 panels
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia
- OMIM
- 600483
- Clinvar variants
- Variants in FGF8
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for FGF8 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Philip Murray (University of Manchester)FGF8 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
Created
Philip Murray (University of Manchester)FGF8 was created by PhilMurray