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| Paediatric disorders - additional genes v8.38 | GFRA1 | Ida Ertmanska Classified gene: GFRA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.38 | GFRA1 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.38 | GFRA1 | Ida Ertmanska Gene: gfra1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.37 | GFRA1 |
Ida Ertmanska gene: GFRA1 was added gene: GFRA1 was added to Paediatric disorders - additional genes. Sources: Literature Q4_26_promote_green tags were added to gene: GFRA1. Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172; 34737117; 36292572 Phenotypes for gene: GFRA1 were set to Renal hypodysplasia/aplasia 4, OMIM:619887; renal hypodysplasia/aplasia 4, MONDO:0030822 Review for gene: GFRA1 was set to GREEN Added comment: 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 |
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