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Fetal anomalies v1.836 | VAMP1 | Arina Puzriakova Tag for-review was removed from gene: VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | VAMP1 | Arina Puzriakova commented on gene: VAMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | VAMP1 |
Arina Puzriakova Source Expert Review Green was added to VAMP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.434 | VAMP1 | Catherine Snow Classified gene: VAMP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.434 | VAMP1 | Catherine Snow Gene: vamp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.430 | VAMP1 | Catherine Snow Tag for-review tag was added to gene: VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.430 | VAMP1 | Catherine Snow Publications for gene: VAMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.429 | VAMP1 | Catherine Snow Classified gene: VAMP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.429 | VAMP1 | Catherine Snow Added comment: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.429 | VAMP1 | Catherine Snow Gene: vamp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | VAMP1 |
Rhiannon Mellis changed review comment from: 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. Sources: Literature; to: 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 |
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Fetal anomalies v1.185 | VAMP1 |
Rhiannon Mellis 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 Added comment: 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. Sources: Literature |