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| Fetal anomalies v0.161 | MAGEL2 | Rebecca Foulger edited their review of gene: MAGEL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.92 | MAGEL2 | Rebecca Foulger Classified gene: MAGEL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.92 | MAGEL2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following comment from Diedre Cilliers. Originally rated Amber based on multiple ratings for multiple disorders: rated as Confirmed for Schaaf-Yang syndrome in DDG2P, with sufficient (>3) cases to support causation. PMID:26365340 (Mejlachowicz et al 2015) report 3 fetuses with Schaaf-Yang syndrome manifested as arthrogryposis multiplex congenita (AMC) and death in utero, and Diedre Cilliers confirms that phenotype is fetally relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.92 | MAGEL2 | Rebecca Foulger Gene: magel2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.91 | MAGEL2 | Rebecca Foulger Publications for gene: MAGEL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.90 | MAGEL2 | Rebecca Foulger Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | MAGEL2 | Rebecca Foulger commented on gene: MAGEL2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [MAGEL2 should be on the Fetal anomalies panel]. The phenotype would be clear on scan and the test likely requested because of the scan findings of akinesia. Even if incidentally identified, it will be useful information for the parents, e.g. expectation of learning difficulties, if positive. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | MAGEL2 | Rebecca Foulger Tag watchlist tag was added to gene: MAGEL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | MAGEL2 | Rebecca Foulger commented on gene: MAGEL2: 'watchlist' tag added to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | MAGEL2 | Rebecca Foulger reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MAGEL2 | Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MAGEL2 |
Rebecca Foulger gene: MAGEL2 was added gene: MAGEL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome |
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