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Intellectual disability
Gene: VAMP1

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

8 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Literature search revealed that developmental delay primarily affects motor function, and it is unclear whether patients exhibit any cognitive deficit. Additional cases would help delineate the association with this phenotype.

Therefore, recommending a rating downgrade from Green to Amber/Red at the next major review, awaiting further publications/clinical evidence.
Created: 16 Sep 2020, 11:21 a.m. | Last Modified: 16 Sep 2020, 11:21 a.m.

Panel Version: 3.304

Created: 16 Sep 2020, 11:21 a.m.
Last Modified: 16 Sep 2020, 11:21 a.m.
Panel version: 3.304

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Severe motor involvement but not actually intellectual disability I don't believe.
Created: 2 Mar 2020, 7:23 a.m. | Last Modified: 2 Mar 2020, 7:23 a.m.

Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 25, MIM# 618323

Created: 2 Mar 2020, 7:23 a.m.
Last Modified: 2 Mar 2020, 7:23 a.m.
Panel version: 3.3

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Additional paper found (28600779) linking VAMP1 with congenital myopathic phenotype. 2/3 reported cases described as having developmental delay ++. Therefore include on here in addition to congenital myopathy panel. Review if further evidence emerges.
Created: 14 Nov 2017, 1:42 p.m.

Created: 14 Nov 2017, 1:42 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.87

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green as patients have delayed develpoment
Created: 10 Nov 2017, 3:20 p.m.

Created: 10 Nov 2017, 3:20 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.63

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to be informed about further cases.
Created: 31 Oct 2017, 1:26 p.m.

Rated Amber: PMID:28253535 describes biallelic variants in VAMP1 in 2 families with congenital myasthenic syndromes and delayed development. Affected individuals of family 1 showed feeding difficulties and delayed motor development. Affected members of family 2 showed severe impairment of developmental milestones.
Created: 31 Oct 2017, 1:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myasthenic syndrome (CMS) and delayed development

Publications

28253535

Created: 31 Oct 2017, 1:26 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.22

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:52 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; manju_list; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:40 p.m.

Mode of inheritance
Unknown

Publications

omim.org
Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 11:24 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene.
Created: 13 Jan 2020, 11:40 a.m. | Last Modified: 13 Jan 2020, 11:40 a.m.

Panel Version: 3.0

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 2:19 p.m.

Created: 20 Jul 2017, 2:19 p.m.

Panel version: 3.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Myasthenic syndrome, congenital, 25, 618323

OMIM

185880

Clinvar variants

Variants in VAMP1

Penetrance

Complete

Publications

Panels with this gene