Childhood onset dystonia, chorea or related movement disorder
Gene: KCNQ2
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
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
Suggested by Huw and RaquelCreated: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Gene: kcnq2 has been classified as Green List (High Evidence).
Tag Q3_23_expert_review tag was added to gene: KCNQ2.
Tag Q3_23_demote_red tag was added to gene: KCNQ2.
Publications for gene: KCNQ2 were set to 12742592
Phenotypes for gene: KCNQ2 were changed from Myokymia, 121200; Dystonia to Developmental and epileptic encephalopathy 7, OMIM:613720; developmental and epileptic encephalopathy, 7, MONDO:0013387; Myokymia, OMIM:121200; Seizures, benign neonatal, 1, OMIM:121200; seizures, benign familial neonatal, 1, MONDO:0007365
Publications for gene: KCNQ2 were set to
Source PanelApp was added to KCNQ2. Mode of inheritance for gene KCNQ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myokymia, 121200; Dystonia for gene: KCNQ2
gene: KCNQ2 was added gene: KCNQ2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: KCNQ2 was set to