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Intellectual disability

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

6 reviews

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

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.

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.

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

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

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.

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: VAMP1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to VAMP1. Panel: Intellectual disability Model of inheritance for gene VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene VAMP1 was set to ['28253535']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

VAMP1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

VAMP1 was created by BRIDGE