Paediatric disorders - additional genes

Gene: GFRA1

Green List (high evidence)

Comment on list classification: There are now 4 unrelated individuals reported in literature with bilateral renal agenesis and unique homozygous variants in GFRA1. Hence, this gene can be promoted to Green on Paediatric disorders - additional genes.

Created: 6 Nov 2026, 4 p.m. | Last Modified: 6 Nov 2026, 4 p.m.

Panel Version: 8.38

PMID: 36292572 Al-Hamed et al., 2022
Proband with bilateral renal agenesis and a homozygous missense variant in GFRA1: c.362A>G; p.(Tyr121Cys). Parents were consanguineous, healthy, het for the variant; previously lost three children to neonatal deaths due to bilateral renal agenesis. Method: exome seq.

PMID: 34737117 Al-Shamsi et al., 2021
Report of four affected neonates from a consanguineous family who presented with lethal bilateral renal agenesis. WES identified a homozygous variant in GFRA1 (NM_005264.8:c.628G>T, p.Gly210Ter).

PMID: 33020172 Arora et al., 2021
Cohort of 184 patients with renal agenesis, 36 of those non-syndromic. 2 unrelated probands were identified with non-syndromic lethal bilateral renal agenesis and homozygous GFRA1 variants: NM_001348097.1:c.676C>T, p.[Arg226*] in P1 and NM_001348097.1:c.1294delA, p.[Thr432Profs*13] in P2. Both families had reported consanguinity. Method: exome/genome seq.

GFRA1 is associated with AR Renal hypodysplasia/aplasia 4, OMIM:619887 (OMIM accessed 6th Nov 2026).
Sources: Literature

Created: 6 Nov 2026, 3:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal hypodysplasia/aplasia 4, OMIM:619887; renal hypodysplasia/aplasia 4, MONDO:0030822

Publications

• 33020172
• 34737117
• 36292572