Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: GFRA1

GFRA1 (GDNF family receptor alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000151892
EnsemblGeneIds (GRCh37): ENSG00000151892
OMIM: 601496, Gene2Phenotype
GFRA1 is in 3 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3rd family

PMID: 34737117;
4 neonates from a consanguineous family who presented with lethal renal disease. Homozygous for (NM_005264.8:c.628G > T:p.[Gly210Ter])
Created: 20 Dec 2021, 5:17 a.m. | Last Modified: 20 Dec 2021, 5:17 a.m.

Panel Version: 0.10312

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
renal agenesis

Publications

34737117

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

Created: 20 Dec 2021, 5:17 a.m.
Last Modified: 20 Dec 2021, 5:17 a.m.
Panel version: Imported from Mendeliome panel version 0.10312

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 34737117;
4 neonates from a consanguineous family who presented with lethal renal disease. Homozygous for (NM_005264.8:c.628G > T:p.[Gly210Ter])
Created: 20 Dec 2021, 6:52 a.m. | Last Modified: 20 Dec 2021, 6:52 a.m.

Panel Version: 0.95

Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system
Sources: Literature
Created: 2 Nov 2020, 2:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal hypodysplasia/aplasia 4, MIM# 619887

Publications

Created: 2 Nov 2020, 2:18 a.m.

Panel version: 0.104

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Renal hypodysplasia/aplasia 4, MIM# 619887

OMIM

601496

Clinvar variants

Variants in GFRA1

Penetrance

None

Publications

Panels with this gene