WNK1

WNK lysine deficient protein kinase 1
OMIM: 605232, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green WNK1 in Familial dysautonomia


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II 201300

Green WNK1 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type II, 201300
    • Pseudohypoaldosteronism, type IIC, 614492

    Green WNK1 in Pain syndromes

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Hereditary sensory and autonomic neuropathy type IIA
    • HSAN 2
    • Neuropathy, hereditary sensory and autonomic, type II, 201300

    Red WNK1 in Paroxysmal central nervous system disorders


    Version 1.10
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • HSAN 2
    • Neuropathy, hereditary sensory and autonomic, type II, 201300
    • Hereditary sensory and autonomic neuropathy type IIA

    Green WNK1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Hereditary Sensory and Autonomic Neuropathy, Type II
    • Pseudohypoaldosteronism, type IIC, 614492
    • Hereditary Sensory and Autonomic Neuropathy, Type II
    • Neuropathy, hereditary sensory and autonomic, type II, 201300
    • Pseudohypoaldosteronism, type IIC, 614492

    Amber WNK1 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.25
    Signed off v.2.23 on 16 Oct 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
    • Pseudohypoaldosteronism, type IIC, 614492

    Green WNK1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Sensory and Autonomic Neuropathy, Type II
    • Neuropathy, hereditary sensory and autonomic, type II, 201300
    • Pseudohypoaldosteronism, type IIC, 614492