Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: GFRA1
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
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: LiteratureCreated: 2 Nov 2020, 2:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal hypodysplasia/aplasia 4, MIM# 619887
Publications
Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887
Publications for gene: GFRA1 were set to 33020172
Gene: gfra1 has been classified as Green List (High Evidence).
Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Gene: gfra1 has been classified as Amber List (Moderate Evidence).
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