Paroxysmal central nervous system disorders

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 14 panels

5 reviews

Robyn Labrum (UCLH NHS Trust)

Green List (high evidence)

Part of phenotype is myokymia? clinical input as to if this can be classified as paroxysmal.
Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97

Penny Clouston (Oxford)

Green List (high evidence)

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Kept rating of KCNQ2 as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 23 Sep 2019, 4:36 p.m. | Last Modified: 23 Sep 2019, 4:36 p.m.
Panel Version: 0.113
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Episodic/paroxysmal symptoms, but don't include epilepsy in this panel?
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

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

Phenotypes
Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720

History Filter Activity

23 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: kcnq2 has been classified as Green List (High Evidence).

23 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: KCNQ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCNQ2.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KCNQ2.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KCNQ2.

3 Jan 2019, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720 for gene: KCNQ2

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KCNQ2 was added gene: KCNQ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ2 were set to Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720