FXYD2

FXYD domain containing ion transport regulator 2
OMIM: 601814, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber FXYD2 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypomagnesemia 2 MONDO:0007937

Amber FXYD2 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism

Amber FXYD2 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • KidGen_Magnesium v38.1.0
  • Expert Review Amber
Phenotypes
  • Renal hypomagnesemia 2 MONDO:0007937