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| Fetal anomalies v0.161 | KMT2C | Rebecca Foulger edited their review of gene: KMT2C: 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 v0.88 | KMT2C | Rebecca Foulger Publications for gene: KMT2C were set to 29276005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.87 | KMT2C | Rebecca Foulger Classified gene: KMT2C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.87 | KMT2C | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Green based on comment from Deidre Cilliers. Sufficient cases (>3 in PMID:22726846 and PMID:29069077) to support causation of Kleefstra syndrome 2, 617768. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.87 | KMT2C | Rebecca Foulger Gene: kmt2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.86 | KMT2C | Rebecca Foulger commented on gene: KMT2C: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [KMT2C should be on the Fetal anomalies panel]. Structural brain malformations and digital anomalies will be seen on ultrasound scan, although there are not many patients in the literature, so difficult to know how frequent these findings are. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | KMT2C | Rebecca Foulger Tag watchlist tag was added to gene: KMT2C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | KMT2C | Rebecca Foulger commented on gene: KMT2C: 'watchlist' tag added to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | KMT2C | Rebecca Foulger reviewed gene: KMT2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | KMT2C |
Rebecca Foulger Source PAGE Additional Gene List was added to KMT2C. Added phenotypes Kleefstra syndrome 2 617768 for gene: KMT2C |
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| Fetal anomalies v0.1 | KMT2C |
Rebecca Foulger gene: KMT2C was added gene: KMT2C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2C were set to 29276005 Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY |
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