Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.4397 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Fetal anomalies v0.4397 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.4397 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR to Noonan syndrome-like with loose anagen hair 1, MIM# 607721
Fetal anomalies v0.4396 SHOC2 Zornitza Stark Publications for gene: SHOC2 were set to
Fetal anomalies v0.4395 SHOC2 Zornitza Stark Mode of pathogenicity for gene: SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4394 SHOC2 Zornitza Stark Mode of inheritance for gene: SHOC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR