Hereditary Spastic Paraplegia - paediatric

Gene: VAMP1

Amber List (moderate 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)

I don't know

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 list
Created: 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
founder
OMIM
185880
Clinvar variants
Variants in VAMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VAMP1 were set to

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vamp1 has been classified as Amber List (Moderate Evidence).

20 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: VAMP1.

18 Apr 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).

18 Apr 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).

18 Apr 2020, Gel status: 1

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