WNK3

WNK lysine deficient protein kinase 3
OMIM: 300358, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber WNK3 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Prieto syndrome, OMIM:309610
    • Intellectual disability, MONDO:0001071
    Tags
    • watchlist
    Red WNK3 in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green WNK3 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • WNK3-related neurodevelopmental disorder
    • Prieto syndrome, OMIM:309610
    Green WNK3 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Prieto syndrome, OMIM:309610
    • Intellectual disability, MONDO:0001071
    Green WNK3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Prieto syndrome, OMIM:309610
    • Intellectual disability, MONDO:0001071