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Intellectual disability

Gene: CACNA1D

Green List (high evidence)

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

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Three cases, postulated gain of function variants. ID / neurological abnormalities are a reported feature. Therefore include.
Created: 18 Dec 2017, 2:44 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gain of function variants associated with Primary aldosteronism, seizures, and neurologic abnormalities 615474 in OMIM and as a probable G2P gene. At least 3 de novo variants reported in 3 unrelated cases. Global developmental delay and intellectual disability is associated with this phenotype.
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: 2 cases reported with de novo monoallelic variants; good supporting evidence on endocrine phenotype from somatic variants; characteristic phenotype. Should only consider likely causative in the presence of endocrine phenotype
Created: 5 Feb 2016, 6:31 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD
  • Sinoatrial node dysfunction and deafness 614896 AR
OMIM
114206
Clinvar variants
Variants in CACNA1D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to CACNA1D. Panel: Intellectual disability Model of inheritance for gene CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene CACNA1D was set to ['28472301', ' 23913001']

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CACNA1D was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1D was added to Intellectual disabilitypanel. Sources: Expert Review Amber