Arthrogryposis
Gene: VAMP1
VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
1 review
Rebecca Foulger (Genomics England curator)
Added to Arthrogryposis panel based on Green rating on 'Neuromuscular arthrogryposis' v0.21 panel.Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- presynaptic CMS
- Congenital myasthenic syndrome
- OMIM
- 185880
- Clinvar variants
- Variants in VAMP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Arthrogryposis
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Congenital myaesthenic syndrome
- Adult onset neurodegenerative disorder
History Filter Activity
26 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: VAMP1 was added gene: VAMP1 was added to Arthrogryposis. Sources: Other,Expert Review Green Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAMP1 were set to 28168212; 28253535 Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome