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  3. FGFR2
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: FGFR2

Red List (low evidence)
FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 20 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

AD inheritance is well established for this gene. Gain of function had been shown for at least several missense (PMIDs: 29848297, 32879300). Loss of function-type variants have also been reported in ClinVar.

AR has been reported in only one patient: homozygous p.(Arg255Gln), ectrodactyly and acinar dysplasia (PMID: 27323706). The variant is heterozygous in both healthy parents. Functional study showed result consistent with loss of function.
Created: 14 Sep 2021, 6:59 a.m. | Last Modified: 14 Sep 2021, 6:59 a.m.
Panel Version: 0.9147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Sep 2021, 6:59 a.m.
Last Modified: 14 Sep 2021, 6:59 a.m.
Panel version: Imported from Mendeliome panel version 0.9147

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Renal malformations are not a prominent feature of FGFR2-related disorders.
Created: 16 Jan 2020, 3:54 a.m. | Last Modified: 16 Jan 2020, 3:54 a.m.
Panel Version: 0.43
Created: 16 Jan 2020, 3:54 a.m.
Last Modified: 16 Jan 2020, 3:54 a.m.
Panel version: 0.43

History Filter Activity

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr2 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR2 was added gene: FGFR2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR2 was set to Unknown