Paroxysmal central nervous system disorders
Gene: KCNMA1The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:18 p.m. | Last Modified: 1 Feb 2023, 2:18 p.m.
Panel Version: 2.3
After consultation with Helen Brittain (Genomics England Clinical Fellow), it is recommened that the MOI for this gene should be made: Both biallelic and monoallelic to incorporate the phenotype OMIM:617643.Created: 24 Mar 2022, 2:07 p.m. | Last Modified: 24 Mar 2022, 2:07 p.m.
Panel Version: 1.42
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
Publications
paroxysmal nonkinesigenic dyskinesia-3 with or without generalized epilepsy.Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Phenotypes
paroxysmal nonkinesigenic dyskinesia-3 with or without generalized epilepsy
Comment on list classification: Kept rating of KCNMA1 as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 23 Sep 2019, 4:25 p.m. | Last Modified: 23 Sep 2019, 4:25 p.m.
Panel Version: 0.108
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. This rating is for a gene (KCNMA1) previously added to the panel by West Midlands, Oxford and Wessex GLH. 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 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
DyskinesiaCreated: 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
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Tag Q1_22_MOI was removed from gene: KCNMA1.
Mode of inheritance for gene KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q1_22_MOI tag was added to gene: KCNMA1.
Publications for gene: KCNMA1 were set to 15937479; 26195193
Publications for gene: KCNMA1 were set to
Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
Gene: kcnma1 has been classified as Green List (High Evidence).
Gene: kcnma1 has been classified as Green List (High Evidence).
Source NHS GMS was added to KCNMA1.
gene: KCNMA1 was added gene: KCNMA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,Wessex and West Midlands GLH Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446