Childhood onset dystonia, chorea or related movement disorder

Gene: KCNQ2

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green. Several GMS cases reported with variants in this gene and a movement disorder as part of a complex phenotype.

Created: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:04 p.m.

Panel Version: 4.3

Red List (low evidence)

Comment on list classification: There is only one case (PMID:12742592), of dystonia in a patient carrying a KCNQ2 variant. To date, there are no reports of relevant chorea or other movement disorders associated with KCNQ2 variants (PMID: 22275249;22926866;23621294;31418850;35780567;33794528). Therefore this gene should not be green on this panel.

Created: 22 Aug 2023, 12:28 p.m. | Last Modified: 22 Aug 2023, 12:28 p.m.

Panel Version: 3.42

It would appear that dystonia has only been reported in one case of Developmental and epileptic encephalopathy 7, OMIM:613720 (PMID: 12742592;22275249;22926866;23621294;31418850;35780567;33794528).

Created: 22 Aug 2023, 12:22 p.m. | Last Modified: 22 Aug 2023, 12:22 p.m.

Panel Version: 3.41

Red List (low evidence)

Single case reported with dystonic features from 2003, cannot find other evidence of association between this gene and dystonia.

Created: 6 Sep 2020, 6:49 a.m. | Last Modified: 6 Sep 2020, 6:49 a.m.

Panel Version: 1.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 7 MIM#613720

Publications

• 12742592

Green List (high evidence)

Suggested by Huw and Raquel

Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9