Congenital hyperinsulinismGene: CACNA1D
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia
Mode of pathogenicity
Variants in this GENE are reported as part of current diagnostic practice
There is currently insufficient evidence for the promotion of this gene to a different gene status; therefore, it will remain red for now.
Created: 31 Jul 2019, 1:48 p.m. | Last Modified: 31 Jul 2019, 1:48 p.m.
Panel Version: 1.52
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: CACNA1D; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal dominant hyperinsulinism with heart defects and severe hypotonia.
Created: 11 Jan 2019, 2:24 p.m.
Phenotypes for gene: CACNA1D were changed from to hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia
Publications for gene: CACNA1D were set to
Mode of inheritance for gene: CACNA1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: CACNA1D was added gene: CACNA1D was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: CACNA1D was set to