KLHL3

kelch like family member 3
OMIM: 605775, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KLHL3 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoaldosteronism, type IID, MIM# 614495

Green KLHL3 in Hypertension and Aldosterone disorders


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IID, MIM# 614495

Green KLHL3 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudohypoaldosteronism, type IID, MIM# 614495
Tags
  • treatable
  • endocrine

Green KLHL3 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Pseudohypoaldosteronism, type IID, MIM# 614495