Brain channelopathy

Gene: KCNQ2

Green List (high evidence)

KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 15 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked a green as suggested by the expert reviewer Dr Matthews (UCL Institute of Neurology)
Created: 22 Feb 2017, 2:22 p.m.
Associated with the phenotype in OMIM. The gene was suggested by the expert Dr Matthews (UCL Insitute of Neurology)
Created: 21 Feb 2017, 5:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myokymia, 121200

History Filter Activity

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

21 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

KCNQ2 was created by arianna

21 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

KCNQ2 was added to Brain channelopathypanel. Sources: Expert list