Cerebral Palsy
Gene: CACNA1DEnsemblGeneIds (GRCh38): ENSG00000157388
EnsemblGeneIds (GRCh37): ENSG00000157388
OMIM: 114206, Gene2Phenotype
CACNA1D is in 12 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic LP missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clincal data.
1 individual described previously with cerebral palsy and a de novo heterozygous gain-of-function missense mutation (PMID: 23913001).
Sources: LiteratureCreated: 27 May 2024, 4:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary aldosteronism, seizures and neurologic abnormalities; PASNA, MIM#615474
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Primary aldosteronism, seizures and neurologic abnormalities
- PASNA, MIM#615474
- OMIM
- 114206
- Clinvar variants
- Variants in CACNA1D
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Deafness_Isolated
- Hyperinsulinism
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Renal Tubulopathies and related disorders
- Intellectual disability syndromic and non-syndromic
- Hypertension and Aldosterone disorders
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Clare van Eyk (University of Adelaide)gene: CACNA1D was added gene: CACNA1D was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1D were set to PMID: 38693247; 23913001 Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures and neurologic abnormalities; PASNA, MIM#615474 Mode of pathogenicity for gene: CACNA1D was set to Other Review for gene: CACNA1D was set to AMBER