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

Gene: GFRA1

Green List (high evidence)

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

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

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

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

History Filter Activity

25 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887

20 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GFRA1 were set to 33020172

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfra1 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfra1 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfra1 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GFRA1 was added gene: GFRA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172 Phenotypes for gene: GFRA1 were set to Renal agenesis Review for gene: GFRA1 was set to AMBER