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  3. FGF20
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CAKUT

Gene: FGF20

Amber List (moderate evidence)
FGF20 (fibroblast growth factor 20)
EnsemblGeneIds (GRCh38): ENSG00000078579
EnsemblGeneIds (GRCh37): ENSG00000078579
OMIM: 605558, Gene2Phenotype
FGF20 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment 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
Created: 4 May 2020, 3:14 p.m.
Last Modified: 4 May 2020, 3:17 p.m.
Panel version: 1.81

Zornitza Stark (Australian Genomics)

I don't know

Multiple affected fetuses in a consanguineous family; functional data.
Sources: Expert list
Created: 16 Jan 2020, 3:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal hypodysplasia/aplasia 2, MIM#615721

Publications

Created: 16 Jan 2020, 3:51 a.m.

Panel version: 1.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Renal hypodysplasia/aplasia 2, 615721
OMIM
605558
Clinvar variants
Variants in FGF20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: fgf20 has been classified as Amber List (Moderate Evidence).

4 May 2020, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: FGF20 were set to 22698282

4 May 2020, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: FGF20 were changed from Renal hypodysplasia/aplasia 2, MIM#615721 to ?Renal hypodysplasia/aplasia 2, 615721

16 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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