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DDG2P

Gene: KCNA2

Green List (high evidence)

KCNA2 (potassium voltage-gated channel subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P updated 09/01/2019. Ratings remain as 'confirmed' for both the activating (gain of function) and the loss of function EPILEPTIC ENCEPHALOPATHY phenotypes.
Created: 14 Jan 2019, 2:07 p.m.
Comment on phenotypes: Phenotypes updated based on DDG2P update from 09/01/2019: 'EPILEPTIC ENCEPHALOPATHY' phenotype replaced.
Created: 14 Jan 2019, 2:06 p.m.
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, loss of function.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY Loss-of-function
  • EPILEPTIC ENCEPHALOPATHY Gain-of-function
OMIM
176262
Clinvar variants
Variants in KCNA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

14 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KCNA2 were changed from EPILEPTIC ENCEPHALOPATHY. to EPILEPTIC ENCEPHALOPATHY Loss-of-function; EPILEPTIC ENCEPHALOPATHY Gain-of-function

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes EPILEPTIC ENCEPHALOPATHY. for gene: KCNA2

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KCNA2 was added gene: KCNA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA2 were set to 25751627 Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.