Renal tubulopathies

Gene: FXYD2

Green List (high evidence)

Comment on list classification: Changing rating from red to amber. 3 cases reported by all with the same variant which is likely a founder effect.

Created: 4 Sep 2019, 9:32 p.m. | Last Modified: 4 Sep 2019, 9:32 p.m.

Panel Version: 1.116

Associated with Hypomagnesemia 2, renal #154020 in OMIM.


PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine.

PMID: 25765846 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect.

3 cases but likely linked by common ancestor as same variant found in all three.

Created: 30 Aug 2019, 3:28 p.m. | Last Modified: 4 Sep 2019, 9:31 p.m.

Panel Version: 1.115

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: FXYD2; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided

Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypomagnesemia 2, renal MIM 154020

Variants in this GENE are reported as part of current diagnostic practice