FXYD2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red FXYD2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

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 Inborn errors of metabolism


Version 2.4
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.3
    Signed off v.2.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Hypomagnesemia 2, renal, 154020

    Green FXYD2 in Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

    review Unknown
    Sources
    • KidGen_Magnesium v38.1.0
    • Expert Review Green