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  3. CACNA1H
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Extreme early-onset hypertension

Gene: CACNA1H

Amber List (moderate evidence)
CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotypes in OMIM and as a possible G2P gene for {Epilepsy, childhood absence, susceptibility to, 6} 611942.
To date in Hyperaldosteronism, familial, type IV 617027 at least 5 AD variants reported in PMID 25907736 & 27729216. Only p.Met1549Ile & p.Met1549Val have so far been associated with causation. Recommendation from Helen Britain that this gene be tiered when it is possible to "white list" variants
Created: 19 Dec 2017, 3 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hyperaldosteronism, familial, type IV 617027; {Epilepsy, childhood absence, susceptibility to, 6} 611942; {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942

Publications

Created: 19 Dec 2017, 3 p.m.

Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperaldosteronism, familial, type IV 617027
  • {Epilepsy, childhood absence, susceptibility to, 6} 611942
  • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
OMIM
607904
Clinvar variants
Variants in CACNA1H
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CACNA1H were set to 25907736; 27729216

19 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CACNA1H was added to Extreme early-onset hypertension panel. Sources: Literature

19 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CACNA1H was created by Sarah Leigh