Congenital hyperinsulinism

Gene: CACNA1D

Red List (low evidence)

CACNA1D (calcium voltage-gated channel subunit alpha1 D)
EnsemblGeneIds (GRCh38): ENSG00000157388
EnsemblGeneIds (GRCh37): ENSG00000157388
OMIM: 114206, Gene2Phenotype
CACNA1D is in 7 panels

2 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia

Publications

Mode of pathogenicity
Other

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

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • hyperinsulinaemic hypoglycaemia, heart defects
  • severe hypotonia
OMIM
114206
Clinvar variants
Variants in CACNA1D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CACNA1D were changed from to hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia

28 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CACNA1D were set to

28 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CACNA1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CACNA1D was added gene: CACNA1D was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: CACNA1D was set to