Intellectual disability - microarray and sequencing
Gene: VAMP1The 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
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
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
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.
Comment when marking as ready: Marked as green as patients have delayed develpomentCreated: 10 Nov 2017, 3:20 p.m.
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
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 : NACreated: 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 TrustCreated: 19 Jul 2017, 1:40 p.m.
Mode of inheritance
Unknown
Publications
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.
Tag watchlist was removed from gene: VAMP1. Tag for-review was removed from gene: VAMP1.
Source Expert Review Red was added to VAMP1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag watchlist tag was added to gene: VAMP1.
Phenotypes for gene: VAMP1 were changed from congenital myasthenic syndrome (CMS) and delayed development to Myasthenic syndrome, congenital, 25, 618323
Publications for gene: VAMP1 were set to 28253535
Gene: vamp1 has been classified as Green List (High Evidence).
Tag for-review tag was added to gene: VAMP1.
Tag watchlist was removed from gene: VAMP1.
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.
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']
This gene has been classified as Amber List (Moderate Evidence).
VAMP1 was created by BRIDGE
VAMP1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene