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Arthrogryposis

Gene: CACNA1E

Green List (high evidence)

CACNA1E (calcium voltage-gated channel subunit alpha1 E)
EnsemblGeneIds (GRCh38): ENSG00000198216
EnsemblGeneIds (GRCh37): ENSG00000198216
OMIM: 601013, Gene2Phenotype
CACNA1E is in 7 panels

2 reviews

Zerin Hyder (Genomics England)

Green List (high evidence)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias: Helbig et al identified 30 unrelated individuals with missense variants in CACNA1E. 13/30 (43%) affected individuals had congenital joint contractures ranging from isolated talipes equinovarus to arthrogryposis multiplex congenita.Functional analysis of several missense variants revealed highly consistent gain-of-function effects, characterized by facilitated voltage-dependent activation, slowed inactivation, and increased current density.
Created: 27 Nov 2019, 4:50 p.m. | Last Modified: 27 Nov 2019, 4:50 p.m.
Panel Version: 2.84

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 69

Publications

Mode of pathogenicity
Other

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating of CACNA1E from Amber to Green following review and confirmation from Zerin Hyder (Genomics England Clinical Team).
Created: 27 Nov 2019, 9:02 p.m. | Last Modified: 27 Nov 2019, 9:02 p.m.
Panel Version: 2.86
Comment on mode of pathogenicity: Set Mode of pathogenicity to 'Other' following Zerin Hyder's review about G.O.F variants in PMID:30343943 (Helbig et al., 2018).
Created: 27 Nov 2019, 9:01 p.m. | Last Modified: 27 Nov 2019, 9:01 p.m.
Panel Version: 2.85
Comment on list classification: Promoted to Amber awaiting clinical review: PMID:30343943 (Helbig et al., 2018) identified 30 unrelated individuals with missense variants in CACNA1E. 13/30 (43%) affected individuals had congenital joint contractures ranging from isolated talipes equinovarus to arthrogryposis multiplex congenita.
Created: 26 Nov 2019, 9:56 p.m. | Last Modified: 26 Nov 2019, 9:56 p.m.
Panel Version: 2.76
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Epileptic encephalopathy, early infantile, 69, 618285
  • congenital joint contractures
OMIM
601013
Clinvar variants
Variants in CACNA1E
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cacna1e has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 2

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene: CACNA1E was changed from to Other

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cacna1e has been classified as Amber List (Moderate Evidence).

26 Nov 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CACNA1E were changed from Epileptic encephalopathy, early infantile, 69, 618285 to Epileptic encephalopathy, early infantile, 69, 618285; congenital joint contractures

26 Nov 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CACNA1E was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Nov 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CACNA1E were changed from to Epileptic encephalopathy, early infantile, 69, 618285

26 Nov 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CACNA1E were set to

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: CACNA1E was added gene: CACNA1E was added to Arthrogryposis. Sources: Expert Review Red Mode of inheritance for gene: CACNA1E was set to