Hereditary Spastic Paraplegia - paediatric
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)
Spasticity is a prominent feature of this condition. Single founder variant in multiple families from Newfoundland. Bi-allelic variants cause a myasthenic syndrome.
Sources: Expert listCreated: 18 Apr 2020, 8:37 a.m. | Last Modified: 20 Sep 2020, 7:28 a.m.
Panel Version: 0.148
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 Amber
- Expert list
- Phenotypes
-
- Spastic ataxia 1, autosomal dominant, MIM# 108600
- Tags
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: VAMP1 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: VAMP1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vamp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vamp1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VAMP1 was added gene: VAMP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, MIM# 108600 Review for gene: VAMP1 was set to GREEN