1. Panels
  2. Neuromuscular arthrogryposis
  3. VAMP1
STRs in panel
Prev Next
Regions in panel
Prev Next

Neuromuscular arthrogryposis

Gene: VAMP1

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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: 28 Apr 2019, 6:36 p.m.
Created: 28 Apr 2019, 6:36 p.m.

Panel version: 0.4

Michael Oldridge (NHS)

Green List (high evidence)

3 families
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; presynaptic CMS

Publications

Created: 28 Apr 2019, 6:34 p.m.

Panel version: 0.3

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VAMP1.

28 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to VAMP1. Rating Changed from Red List (low evidence) to Green List (high evidence)

28 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: VAMP1 was added gene: VAMP1 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAMP1 were set to 28253535; 28168212 Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome