| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.836 | TSFM | Arina Puzriakova Tag for-review was removed from gene: TSFM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | TSFM | Arina Puzriakova commented on gene: TSFM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | TSFM |
Arina Puzriakova Source Expert Review Green was added to TSFM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.598 | TSFM | Catherine Snow Publications for gene: TSFM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.594 | TSFM | Catherine Snow Tag for-review tag was added to gene: TSFM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.593 | TSFM | Catherine Snow Classified gene: TSFM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.593 | TSFM | 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 v1.593 | TSFM | Catherine Snow Gene: tsfm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.185 | TSFM |
Rhiannon Mellis gene: TSFM was added gene: TSFM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 Review for gene: TSFM 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 (Neuromuscular disorders). 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: IUGR, decreased fetal movements, reduced brain gyri Sources: Literature |
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