Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.311 DNMT3B Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotypes include micrognathia and microcephaly. Therefore upgrade DNMT3B from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.310 DNMT3B Rebecca Foulger Source Expert Review Green was added to DNMT3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.135 DNMT3B Rebecca Foulger Source Expert Review Red was added to DNMT3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 DNMT3B Rebecca Foulger edited their review of gene: DNMT3B: 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: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 DNMT3B Rebecca Foulger reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 DNMT3B Rebecca Foulger gene: DNMT3B was added
gene: DNMT3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1