Congenital myaesthenic syndrome
Gene: VAMP1

VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndrome; presynaptic CMS
Created: 22 Mar 2021, 2:27 p.m. | Last Modified: 22 Mar 2021, 2:27 p.m.

Panel Version: 2.36

Created: 22 Mar 2021, 2:27 p.m.
Last Modified: 22 Mar 2021, 2:27 p.m.
Panel version: 2.36

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene.
Created: 13 Jan 2020, 11:38 a.m. | Last Modified: 13 Jan 2020, 11:38 a.m.

Panel Version: 2.0

Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (new publication PMID: 28168212) plus animal model and external review comment all support gene-disease association.
Created: 16 Oct 2019, 1:18 p.m. | Last Modified: 16 Oct 2019, 1:18 p.m.

Panel Version: 1.61

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Created: 30 Apr 2019, 9:30 a.m.

Panel version: 2.0

Michael Oldridge (NHS)

Green List (high evidence)

Shen et al (28168212) describe homoygous fs mutation in patient with fatal CMS (alternative gene name SYB1). 3 unrelated cases and Salpietro et al also study VAMP1-/- mouse model demonstrating presynaptic neuromuscular defect. Upgrade to green list.
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; presynaptic CMS

Publications

28168212

Created: 29 Apr 2019, 4:33 p.m.

Panel version: 1.14

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Biallelic mode of inheritance for CMS is supported by PMID:28253535.
Created: 24 Oct 2017, 4:14 p.m.

Comment on list classification: Rated as Amber in agreement with Arianna Tucci, as 2 families only reported. Added 'watchlist' tag to be informed of further cases to support causation.
Created: 24 Oct 2017, 4:13 p.m.

Added to Congenital myaesthenia panel based on advice from Arianna Tucci: PMID:28253535 report 2 families with recessive presynaptic congenital myasthenic syndrome (CMS) and segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC (p.Gly18TrpfsTer5*) in a Kuwaiti family and c.146G>C (p.Arg49Pro) in an Israeli family. Knockout mice showed neuromuscular junction impairment.
Created: 24 Oct 2017, 4:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; presynaptic CMS

Publications

28253535

Created: 24 Oct 2017, 4:12 p.m.

Panel version: 1.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH
Literature

Phenotypes

Myasthenic syndrome, congenital, 25, OMIM:618323

OMIM

185880

Clinvar variants

Variants in VAMP1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

22 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323

13 Jan 2020, Gel status: 3