Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: FGF8EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 10 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.
Note new paper reporting positional effect from FGF8 duplication and femoral hypoplasia.Created: 6 Sep 2021, 5:55 a.m. | Last Modified: 6 Sep 2021, 5:55 a.m.
Panel Version: 0.9085
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Hypoplastic femurs and pelvis, MIM#619545
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
Chirag Patel (Genetic Health Queensland)
Not enough evidence in this syndrome.Created: 16 Jan 2020, 3:53 a.m. | Last Modified: 16 Jan 2020, 3:53 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Red
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypogonadotropic hypogonadism 6 with or without anosmia
- OMIM #612702
- OMIM
- 600483
- Clinvar variants
- Variants in FGF8
- Penetrance
- None
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702 to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgf8 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FGF8 were changed from to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FGF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: fgf8 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGF8 was added gene: FGF8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGF8 was set to Unknown