CAKUT
Gene: FGF20Comment on list classification: Added to panel and rated Amber by Zornitza. One consanguineous family plus functional data from mice studies. Therefore updated rating to Amber.Created: 4 May 2020, 3:19 p.m. | Last Modified: 4 May 2020, 3:19 p.m.
Panel Version: 1.83
Functional experiments (in mice) confirm role of FGF20 in kidney development (e.g. PMID:23112089).Created: 4 May 2020, 3:18 p.m. | Last Modified: 4 May 2020, 3:18 p.m.
Panel Version: 1.81
PMID:22698282. Barak et al., 2012 identify a consanguineous family where multiple pregnancies showed anhydramnios and the fetuses had bilateral renal agenesis. DNA analysis from the initial fetus identified homozygous variants in four genes expressed during early kidney development. One of these mutations was a single base-pair deletion in exon 2 of FGF20 which segregated with the disorder within the family. All pregnancies were terminated. A mouse model shows loss of Fgf20 resulted in kidney agenesis.Created: 4 May 2020, 3:14 p.m. | Last Modified: 4 May 2020, 3:17 p.m.
Panel Version: 1.80
Multiple affected fetuses in a consanguineous family; functional data.
Sources: Expert listCreated: 16 Jan 2020, 3:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal hypodysplasia/aplasia 2, MIM#615721
Publications
Gene: fgf20 has been classified as Amber List (Moderate Evidence).
Publications for gene: FGF20 were set to 22698282
Phenotypes for gene: FGF20 were changed from Renal hypodysplasia/aplasia 2, MIM#615721 to ?Renal hypodysplasia/aplasia 2, 615721
gene: FGF20 was added gene: FGF20 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF20 were set to 22698282 Phenotypes for gene: FGF20 were set to Renal hypodysplasia/aplasia 2, MIM#615721 Review for gene: FGF20 was set to AMBER