Renal Tubulopathies and related disorders
Gene: FXYD2
3 families segregating the same missense variant (Gly41Arg) with isolated renal magnesium loss. The 3 families shared the same haplotype, suggesting the families are related by a common ancestor. Functional assays demonstrate that Gly41Arg could act through a dominant negative mechanism. Furthermore, 2 individuals with FXYD2 haploinsufficiency (11q23.3-ter deletion) had normal serum magnesium levels. Null mouse model has a pancreatic phenotype rather than a renal phenotype.Created: 13 May 2022, 5:21 a.m. | Last Modified: 13 May 2022, 5:21 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hypomagnesemia 2 MONDO:0007937
Publications
Mode of pathogenicity
Other
gene: FXYD2 was added gene: FXYD2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Amber Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FXYD2 were set to 17980699; 18448590; 12763862; 25765846; 27014088; 11062458 Phenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937