Hyperinsulinism
Gene: CACNA1DEnsemblGeneIds (GRCh38): ENSG00000157388
EnsemblGeneIds (GRCh37): ENSG00000157388
OMIM: 114206, Gene2Phenotype
CACNA1D is in 12 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
2nd case reported of child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay. WES identified a de novo CACNA1D mutation (p.G403D). CACNA1D encodes the main L-type voltage-gated calcium channel in the pancreatic β-cell, a key component of the insulin secretion pathway. The p.G403D mutation had been reported previously as an activating mutation in an individual with primary hyper-aldosteronism, neuromuscular abnormalities, and transient hypoglycaemia.Created: 22 Aug 2024, 9:27 p.m. | Last Modified: 22 Aug 2024, 9:27 p.m.
Panel Version: 1.18
1 patient with congential hyperinsulinemic hypoglycemia and primary hyperaldosteronism, aortic insufficiency, pronounced developmental delay, muscle hypotonia, and facial dysmorphias but without seizures. Trio WES identified a de novo CACNA1D missense variant (p.L271H). No functional work.Created: 14 May 2024, 4:55 a.m. | Last Modified: 14 May 2024, 4:55 a.m.
Panel Version: 1.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia
Publications
- PMID: 32336187
Mode of pathogenicity
Other
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
GoF de novo variant reported in infant with persistent hyperinsulinaemia, congenital heart disease and hypotonia. Same variant reported in another individual with some overlapping features and transient hypoglycaemia in the newborn period; however, hyperinsulinaemia not confirmed in this other individual.
Sources: Expert listCreated: 14 Feb 2020, 5:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism; heart defect; hypotonia
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hyperinsulinism
- heart defect
- hypotonia
- 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
Chirag Patel (Genetic Health Queensland)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 Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CACNA1D was added gene: CACNA1D was added to Hyperinsulinism. Sources: Expert list Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1D were set to 28318089; 23913001 Phenotypes for gene: CACNA1D were set to Hyperinsulinism; heart defect; hypotonia Mode of pathogenicity for gene: CACNA1D was set to Other Review for gene: CACNA1D was set to RED