Paroxysmal central nervous system disorders

Gene: KCNMA1

The 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

Green List (high evidence)

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

• 29545233
• 27567911

Green List (high evidence)

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

Green List (high evidence)

I don't know

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

Green List (high evidence)

Dyskinesia

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
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446