FXYD2

FXYD domain containing ion transport regulator 2
OMIM: 601814, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red FXYD2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)
  • Hypomagnesemia 2, renal 154020
Tags
  • founder-effect
Red FXYD2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Hypomagnesemia 2, renal 154020
    • Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)
    Amber FXYD2 in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Hypomagnesemia 2, renal, 154020