1. Panels
  2. Fetal anomalies
  3. CACNA1D
Genes in panel
Prev Next

Fetal anomalies

Gene: CACNA1D

Amber List (moderate evidence)
CACNA1D (calcium voltage-gated channel subunit alpha1 D)
EnsemblGeneIds (GRCh38): ENSG00000157388
EnsemblGeneIds (GRCh37): ENSG00000157388
OMIM: 114206, Gene2Phenotype
CACNA1D is in 6 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Only 2 cases; 1 complicated by cerebral palsy, no convincing structural phenotype. Keep amber
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rhiannon Mellis (Great Ormond Street Hospital)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support keeping as Amber gene for now.

Currently rated Green on the following other PanelApp panel(s): ID and genetic epilepsy

Details of review:
Two fetal cases reported by Li et al 2020 (PMID: 32410215): (1) VSD and IUGR, and (2) AVSD, DORV, cystic hygroma, pericardial effusion, ascites, visceral isomerism, echogenic kidneys.

As mentioned below, MOP is LOF for SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, and listed as Activating for PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
Created: 11 Aug 2022, 10:54 a.m. | Last Modified: 11 Aug 2022, 10:54 a.m.
Panel Version: 1.900

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 11 Aug 2022, 10:54 a.m.
Last Modified: 11 Aug 2022, 10:54 a.m.
Panel version: 1.900

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for SINOATRIAL NODE DYSFUNCTION AND DEAFNESS and Probable for PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as LOF for SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, and listed as Activating for PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474
OMIM
114206
Clinvar variants
Variants in CACNA1D
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CACNA1D were set to 32410215

19 Aug 2022, Gel status: 2

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: CACNA1D was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

19 Aug 2022, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CACNA1D were set to

19 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CACNA1D were changed from PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; SINOATRIAL NODE DYSFUNCTION AND DEAFNESS to Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES for gene: CACNA1D

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CACNA1D was added gene: CACNA1D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS