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| Fetal anomalies v1.836 | WDR81 | Arina Puzriakova Tag for-review was removed from gene: WDR81. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | WDR81 | Arina Puzriakova commented on gene: WDR81: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | WDR81 |
Arina Puzriakova Source Expert Review Green was added to WDR81. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.291 | WDR81 | Arina Puzriakova Publications for gene: WDR81 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.290 | WDR81 | Arina Puzriakova Phenotypes for gene: WDR81 were changed from Hydrocephalus, congenital, 3, with brain anomalies to Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967; Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.289 | WDR81 | Arina Puzriakova Classified gene: WDR81 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.289 | WDR81 | 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 v1.289 | WDR81 | Arina Puzriakova Gene: wdr81 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.288 | WDR81 | Arina Puzriakova Tag for-review tag was added to gene: WDR81. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.185 | WDR81 |
Rhiannon Mellis gene: WDR81 was added gene: WDR81 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies Review for gene: WDR81 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 (Cerebellar hypoplasia). 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 |
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