Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Fetal anomalies v1.836 DENND5A Arina Puzriakova Tag for-review was removed from gene: DENND5A.
Fetal anomalies v1.836 DENND5A Arina Puzriakova commented on gene: DENND5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 DENND5A Arina Puzriakova Source Expert Review Green was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.377 DENND5A Arina Puzriakova Phenotypes for gene: DENND5A were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 49, OMIM:617281; Developmental and epileptic encephalopathy, 49, MONDO:0015002
Fetal anomalies v1.374 DENND5A Arina Puzriakova Classified gene: DENND5A as Amber List (moderate evidence)
Fetal anomalies v1.374 DENND5A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.374 DENND5A Arina Puzriakova Gene: dennd5a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.373 DENND5A Arina Puzriakova Tag for-review tag was added to gene: DENND5A.
Fetal anomalies v1.227 DENND5A Rhiannon Mellis reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 49, 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.9 DENND5A Rebecca Foulger reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 DENND5A Rebecca Foulger gene: DENND5A was added
gene: DENND5A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DENND5A were set to EPILEPTIC ENCEPHALOPATHY