Congenital myaesthenic syndrome

Gene: VAMP1

Green List (high evidence)

VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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.

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

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

History Filter Activity

16 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vamp1 has been classified as Green List (High Evidence).

30 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: VAMP1 were set to 28168212

29 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene VAMP1 were changed from 28253535 to 28168212

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VAMP1.

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to VAMP1.

24 Oct 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for VAMP1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Oct 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Oct 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

VAMP1 was added to Congenital myaestheniapanel. Sources: Literature

24 Oct 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

VAMP1 was created by rfoulger