Regression
Gene: VAMP1EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families with spastic ataxia phenotype from Newfoundland, same variant, founder effect. Onset of neurological symptoms 10-20 years, not neurodevelopmental regression.Created: 19 Mar 2022, 1:27 a.m. | Last Modified: 19 Mar 2022, 1:27 a.m.
Panel Version: 0.429
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic ataxia 1, autosomal dominant, MIM# 108600
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Spastic ataxia 1, autosomal dominant, MIM# 108600
- OMIM
- 185880
- Clinvar variants
- Variants in VAMP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Dystonia - complex
- Ataxia - adult onset
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vamp1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, MIM# 108600
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: VAMP1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: VAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vamp1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VAMP1 was added gene: VAMP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VAMP1 was set to Unknown