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  3. VAMP1
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Fetal anomalies

Gene: VAMP1

Green List (high evidence)
VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Created: 3 Mar 2022, 11:19 a.m.
Last Modified: 3 Mar 2022, 11:19 a.m.
Panel version: 1.836

Catherine Snow (Genomics England)

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 2:29 p.m. | Last Modified: 1 Feb 2021, 2:29 p.m.
Panel Version: 1.429
Created: 1 Feb 2021, 2:29 p.m.
Last Modified: 1 Feb 2021, 2:29 p.m.
Panel version: 1.429

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Phenotype = congenital myasthenic syndrome. Reported patients present with severe hypotonia from birth, some have contractures, unclear if present at birth but decreased fetal movements reported so could present prenatally. PubMed: 28600779, 28253535, 28168212

Sources: Literature
Created: 28 Jan 2021, 10:27 a.m. | Last Modified: 28 Jan 2021, 10:29 a.m.
Panel Version: 1.185

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 25

Created: 28 Jan 2021, 10:27 a.m.
Last Modified: 28 Jan 2021, 10:29 a.m.
Panel version: 1.185

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: VAMP1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to VAMP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

1 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag for-review tag was added to gene: VAMP1.

1 Feb 2021, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: VAMP1 were set to

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

28 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rhiannon Mellis (Great Ormond Street Hospital)

gene: VAMP1 was added gene: VAMP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25 Review for gene: VAMP1 was set to GREEN