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BabyScreen+ newborn screening
Gene: VAMP1

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.

Congenital onset.

Treatment: Acetylcholine-esterase inhibitors

Non-genetic confirmatory testing: repetitive nerve stimulation
Created: 27 Mar 2023, 4:08 a.m. | Last Modified: 27 Mar 2023, 4:08 a.m.

Panel Version: 0.2119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 25, MIM# 618323

Publications

Created: 27 Mar 2023, 4:08 a.m.
Last Modified: 27 Mar 2023, 4:08 a.m.
Panel version: 0.2119

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene
BeginNGS

Phenotypes

Myasthenic syndrome, congenital, 25, MIM# 618323

Tags

treatable neurological

OMIM

Clinvar variants

Variants in VAMP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Mar 2023, 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).

27 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VAMP1 were changed from Spastic ataxia; Myasthenic syndrome, congenital, 25, MIM# 618323 to Myasthenic syndrome, congenital, 25, MIM# 618323

27 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VAMP1 were set to

27 Mar 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

27 Mar 2023, 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).

27 Mar 2023, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: VAMP1. Tag neurological tag was added to gene: VAMP1.

18 Sep 2022, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to VAMP1. Source BabySeq Category C gene was added to VAMP1. Mode of inheritance for gene VAMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Spastic ataxia for gene: VAMP1 Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Sep 2022, Gel status: 3

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 gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323