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  3. CACNA1D
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Deafness_Isolated

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 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Original two families reported segregated the same homozygous variant, ?founder. Mouse model.
Created: 30 Dec 2019, 11:48 p.m. | Last Modified: 30 Dec 2019, 11:48 p.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sinoatrial node dysfunction and deafness, MIM# 614896

Publications

Created: 30 Dec 2019, 11:48 p.m.
Last Modified: 30 Dec 2019, 11:48 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Sinoatrial node dysfunction and deafness, MIM# 614896
OMIM
114206
Clinvar variants
Variants in CACNA1D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1d has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1D was added gene: CACNA1D was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNA1D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1D were set to 21131953; 15357422; 22678062 Phenotypes for gene: CACNA1D were set to Sinoatrial node dysfunction and deafness, MIM# 614896