WNK1

WNK lysine deficient protein kinase 1
OMIM: 605232, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green WNK1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300
  • MONDO:0024309
  • Pseudohypoaldosteronism, type IIC, MIM# 614492

Green WNK1 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492

Green WNK1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • HSAN/SFN
    • Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300
    • MONDO:0024309

    Green WNK1 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.34

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type II, 201300
    • HSAN 2
    • Hereditary sensory and autonomic neuropathy type IIA

    Green WNK1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)

    Red WNK1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type I

    Green WNK1 in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 0.50

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • # 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
    • HSAN2A

    Green WNK1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)

    Green WNK1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
    Tags
    • treatable
    • endocrine

    Green WNK1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492