Paroxysmal central nervous system disorders

Gene: VAMP2

Green List (high evidence)

Recent publication (Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. ?Better on intellectual disability or neurodevelopmental panel. Needs clinical input.

Created: 1 Oct 2019, 12:20 p.m. | Last Modified: 1 Oct 2019, 12:20 p.m.

Panel Version: 0.158

AD de novo - phenotype axial hypotonia, intellectual disability, and autistic features, or more severe including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities.

Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.

Panel Version: 0.97

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

Phenotypes
axial hypotonia; intellectual disability; autistic features; central visual impairment; hyperkinetic movement disorder; epilepsy or electroencephalography abnormalities

I don't know

PMID: 30929742. AD (de novo mutations). Is this paroxysmal?

Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.

Panel Version: 0.95

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

Publications

• 30929742

I don't know

Review from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. This is a gene that was re-reviewed to reach a consensus- The comment by Robyn Labrum was expanded from previous comment. No new rating was submitted so the suggested rating remains as Green.

Created: 1 Oct 2019, 12:25 p.m. | Last Modified: 1 Oct 2019, 12:25 p.m.

Panel Version: 0.160

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. This rating is for a gene (VAMP2) previously added to the panel by London North GLH. A question mark was submitted for the rating because of a question over the relevance of the phenotype, therefore I uploaded an Amber review from Penny Clouston.

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

Green List (high evidence)