CACNA1I

calcium voltage-gated channel subunit alpha1 I
OMIM: 608230, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CACNA1I in Genomic imprinting


Version 0.138

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature

Red CACNA1I in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Amber CACNA1I in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder
Tags
  • Q4_21_rating
  • gene-checked

Green CACNA1I in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder
    Tags
    • gene-checked