KLHL3

kelch like family member 3
OMIM: 605775, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green KLHL3 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • UKGTN
    Phenotypes
    • Pseudohypoaldosteronism, type IID, 614495
    Amber KLHL3 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Pseudohypoaldosteronism, type IID, 614495
    Tags
    • Q4_23_promote_green
    Green KLHL3 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pseudohypoaldosteronism, type IID, 614495
    Red KLHL3 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Other
    • MIM 614495
    • Pseudohypoaldosteronism type IID