Congenital myaesthenic syndrome
Gene: VAMP1Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndrome; presynaptic CMSCreated: 22 Mar 2021, 2:27 p.m. | Last Modified: 22 Mar 2021, 2:27 p.m.
Panel Version: 2.36
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.
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
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
Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323
Tag watchlist was removed from gene: VAMP1.
Gene: vamp1 has been classified as Green List (High Evidence).
Publications for gene: VAMP1 were set to 28168212
Publications for gene VAMP1 were changed from 28253535 to 28168212
Source NHS GMS was added to VAMP1.
Source Wessex and West Midlands GLH was added to VAMP1.
Mode of inheritance for VAMP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
VAMP1 was added to Congenital myaestheniapanel. Sources: Literature
VAMP1 was created by rfoulger