Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CDH2.
Tag Q1_25_ promote_green was removed from gene: CDH2.
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram edited their review of gene: CDH2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.77 CDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.74 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CDH2.
Fetal anomalies v5.74 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CDH2.
Fetal anomalies v5.16 CDH2 Achchuthan Shanmugasundram commented on gene: CDH2
Fetal anomalies v5.15 CDH2 Anna de Burca reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585109, 31650526; Phenotypes: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#618929; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.13 CDH2 Achchuthan Shanmugasundram gene: CDH2 was added
gene: CDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31650526; 31585109
Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
Fetal anomalies v0.3 CDH23 Rebecca Foulger reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 CDH23 Rebecca Foulger gene: CDH23 was added
gene: CDH23 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: CDH23 was set to