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  3. VAMP1
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Congenital Myasthenia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least five unrelated families and a mouse model.
Created: 12 Feb 2020, 3:05 a.m. | Last Modified: 12 Feb 2020, 3:05 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 25, MIM# 618323

Publications

Created: 12 Feb 2020, 3:05 a.m.
Last Modified: 12 Feb 2020, 3:05 a.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • presynaptic CMS
  • Myasthenic syndrome, congenital, 25, MIM# 618323
OMIM
185880
Clinvar variants
Variants in VAMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vamp1 has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VAMP1 were changed from presynaptic CMS; Congenital myasthenic syndrome to presynaptic CMS; Myasthenic syndrome, congenital, 25, MIM# 618323

12 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VAMP1 were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: VAMP1 was added gene: VAMP1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome