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Research panel - Severe Paediatric Disorders

Gene: VAMP2

Green List (high evidence)
VAMP2 (vesicle associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000220205
EnsemblGeneIds (GRCh37): ENSG00000220205
OMIM: 185881, Gene2Phenotype
VAMP2 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: VAMP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cortical visual impairment;Seizures;Stereotypic behavior;Generalized hypotonia;Intellectual disability;Abnormality of movement;Global developmental delay;Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment;Autistic behavior; Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Stereotypic behavior
  • Global developmental delay
  • Generalized hypotonia
  • Autistic behavior
  • Abnormality of movement
  • Seizures
  • Cortical visual impairment
  • Intellectual disability
  • Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment
OMIM
185881
Clinvar variants
Variants in VAMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene VAMP2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Stereotypic behavior; Global developmental delay; Generalized hypotonia; Abnormality of movement; Autistic behavior; Seizures; Cortical visual impairment; Intellectual disability; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Stereotypic behavior; Global developmental delay; Generalized hypotonia; Abnormality of movement; Autistic behavior; Seizures; Cortical visual impairment; Intellectual disability; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Stereotypic behavior; Global developmental delay; Generalized hypotonia; Abnormality of movement; Autistic behavior; Seizures; Cortical visual impairment; Intellectual disability; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Stereotypic behavior; Autistic behavior; Cortical visual impairment; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment; Intellectual disability; Global developmental delay; Abnormality of movement; Generalized hypotonia; Seizures for gene: VAMP2

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Stereotypic behavior; Global developmental delay; Generalized hypotonia; Abnormality of movement; Autistic behavior; Seizures; Cortical visual impairment; Intellectual disability; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to VAMP2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to VAMP2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: VAMP2 was added gene: VAMP2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: VAMP2 was set to