Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Fetal anomalies v8.26 SMARCA1 Ida Ertmanska commented on gene: SMARCA1
Fetal anomalies v8.25 SMARCA1 Natalie Canham reviewed gene: SMARCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41213919; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.23 SMARCA1 Ida Ertmanska gene: SMARCA1 was added
gene: SMARCA1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMARCA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMARCA1 were set to 41213919
Phenotypes for gene: SMARCA1 were set to neurodevelopmental disorder, MONDO:0700092