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Hearing loss

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

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#614896:Sinoatrial node dysfunction and deafness[Deafness, congenital sensorineural, severe to profound; Sinoatrial node dysfunctionBradycardiaSyncopal episodes; Caused by mutation in the alpha-1D subunit of the L-type voltage-dependent calcium channel gene (CACNA1D,)]; #615474:Primary aldosteronism, seizures, and neurologic abnormalities[Cortical blindness (in one patient); Left ventricular hypertrophyBiventricular hypertrophy (in one patient)Ventricular septal defect (in one patient)Patent foramen ovale (in one patient)Second-degree heart block (in one patient); Hypertension, neonatalPulmonary artery hypertension (in one patient); Renal stones (in one patient); Global developmental delaySeizures, generalized tonic-clonicSeizures, myoclonicSeizures, complex partialCerebral palsySpastic quadriplegia (in one patient)Athetosis, mild (in one patient); Movement disorder; Verbal outbursts (in one patient); Metabolic alkalosis; Elevated aldosteroneHigh aldosterone/renin ratioLow plasma renin activity; Hypokalemia]

Publications

Details

Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sinoatrial node dysfunction and deafness, 614896
OMIM
114206
Clinvar variants
Variants in CACNA1D
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1D was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1D was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert