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| Fetal anomalies v1.836 | SLC18A3 | Arina Puzriakova Tag for-review was removed from gene: SLC18A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | SLC18A3 | Arina Puzriakova commented on gene: SLC18A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | SLC18A3 |
Arina Puzriakova Source Expert Review Green was added to SLC18A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.606 | SLC18A3 | Arina Puzriakova Phenotypes for gene: SLC18A3 were changed from Myasthenic syndrome, congenital, 21, presynaptic to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; Congenital myasthenic syndrome 21, MONDO:0014983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.605 | SLC18A3 | Arina Puzriakova Publications for gene: SLC18A3 were set to PMID: 31059209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.601 | SLC18A3 | Arina Puzriakova Classified gene: SLC18A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.601 | SLC18A3 | Arina Puzriakova 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 v1.601 | SLC18A3 | Arina Puzriakova Gene: slc18a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.600 | SLC18A3 | Arina Puzriakova Tag for-review tag was added to gene: SLC18A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.192 | SLC18A3 |
Rhiannon Mellis gene: SLC18A3 was added gene: SLC18A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to PMID: 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic Review for gene: SLC18A3 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 related 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. Green on related panel(s): Neuromuscular disorders Sources: Literature |
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