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  3. FXYD2
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Renal Tubulopathies and related disorders

Gene: FXYD2

Amber List (moderate evidence)
FXYD2 (FXYD domain containing ion transport regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000137731
EnsemblGeneIds (GRCh37): ENSG00000137731
OMIM: 601814, Gene2Phenotype
FXYD2 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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

Created: 13 May 2022, 5:21 a.m.
Last Modified: 13 May 2022, 5:21 a.m.
Panel version: Imported from Renal Abnormalities of Magnesium Metabolism panel version 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • KidGen_Magnesium v38.1.0
  • Expert Review Amber
Phenotypes
  • Renal hypomagnesemia 2 MONDO:0007937
OMIM
601814
Clinvar variants
Variants in FXYD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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