Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Fetal anomalies v2.10 PLCB4 Arina Puzriakova Tag Q2_22_rating was removed from gene: PLCB4.
Fetal anomalies v2.10 PLCB4 Arina Puzriakova reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.9 PLCB4 Arina Puzriakova Source Expert Review Green was added to PLCB4.
Source NHS GMS was added to PLCB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.862 PLCB4 Eleanor Williams Classified gene: PLCB4 as Amber List (moderate evidence)
Fetal anomalies v1.862 PLCB4 Eleanor Williams Added comment: Comment on list classification: Leaving the rating of this gene as amber just now, but there are sufficient cases to promote to green following GMS review.
Fetal anomalies v1.862 PLCB4 Eleanor Williams Gene: plcb4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.861 PLCB4 Eleanor Williams Mode of inheritance for gene: PLCB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.860 PLCB4 Eleanor Williams Tag Q2_22_rating tag was added to gene: PLCB4.
Fetal anomalies v1.860 PLCB4 Eleanor Williams reviewed gene: PLCB4: Rating: ; Mode of pathogenicity: None; Publications: 22560091, 23315542, 28328130, 23913798; Phenotypes: Auriculocondylar syndrome 2, OMIM:614669, auriculocondylar syndrome 2, MONDO:0013845; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.9 PLCB4 Rebecca Foulger commented on gene: PLCB4: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.3 PLCB4 Rebecca Foulger reviewed gene: PLCB4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 PLCB4 Rebecca Foulger gene: PLCB4 was added
gene: PLCB4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME