CACNA1H

calcium voltage-gated channel subunit alpha1 H
OMIM: 607904, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CACNA1H in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Autism spectrum disorder

Green CACNA1H in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperaldosteronism, familial, type IV MIM#617027
  • MONDO:0014875

Green CACNA1H in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.15

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
    • Hyperaldosteronism, familial, type IV MIM#617027
    • MONDO:0014875

    Green CACNA1H in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.18

    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
    • MONDO:0014875
    • Hyperaldosteronism, familial, type IV MIM#617027