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Intellectual disability


Amber List (moderate evidence)

CACNA1I (calcium voltage-gated channel subunit alpha1 I)
EnsemblGeneIds (GRCh38): ENSG00000100346
EnsemblGeneIds (GRCh37): ENSG00000100346
OMIM: 608230, Gene2Phenotype
CACNA1I is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 11 Oct 2021, 10:05 a.m. | Last Modified: 11 Oct 2021, 10:05 a.m.
Panel Version: 3.1339

Zornitza Stark (Australian Genomics)

Green List (high evidence)

4 different missense variants identified and shown to result in a gain of function.

2 individuals with de novo variants (a 3rd also suspected de novo but their father was unavailable for testing) - these patients all had severe neurodevelopmental disorders, involving severe global developmental delay, absence of speech, gross motor delay, muscular hypotonia, early-onset seizures, cortical visual impairment, and feeding difficulties. Variable clinical features include various brain malformations, startle response or seizures, postnatal growth retardation, gastroesophageal reflux, and gastrostomy.

1 family had three affected individuals - variable cognitive impairment in all, involving borderline intellectual functioning or mild or moderate intellectual disability as main clinical feature, with late-onset seizures in the mother and speech retardation in one of the children. This variant had a milder functional effect than the variants in sporadic cases.
Sources: Literature
Created: 13 Sep 2021, 8 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Neurodevelopmental disorder


Mode of pathogenicity

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review Amber
  • Neurodevelopmental disorder
Clinvar variants
Variants in CACNA1I
Mode of Pathogenicity
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cacna1i has been classified as Amber List (Moderate Evidence).

11 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: CACNA1I.

13 Sep 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Australian Genomics)

gene: CACNA1I was added gene: CACNA1I was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CACNA1I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1I were set to 33704440 Phenotypes for gene: CACNA1I were set to Neurodevelopmental disorder Mode of pathogenicity for gene: CACNA1I was set to Other Review for gene: CACNA1I was set to GREEN gene: CACNA1I was marked as current diagnostic