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Research panel - Severe Paediatric Disorders

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

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: VAMP1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Myasthenic syndrome, congenital, 25, 618323 (3) | Spastic ataxia 1, autosomal dominant, 108600 (3); Mode of inheritance: Autosomal recessive | 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 25, 618323
  • Spastic ataxia 1, autosomal dominant, 108600
OMIM
185880
Clinvar variants
Variants in VAMP1
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 VAMP1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic ataxia 1, autosomal dominant, 108600; Myasthenic syndrome, congenital, 25, 618323 for gene: VAMP1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene VAMP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to VAMP1.

14 Feb 2020, 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)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: VAMP1 was added gene: VAMP1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: VAMP1 was set to