Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.2801 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Fetal anomalies v0.2801 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2801 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from MUCOLIPIDOSIS IV to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Fetal anomalies v0.2800 MCOLN1 Zornitza Stark Publications for gene: MCOLN1 were set to
Fetal anomalies v0.2799 MCOLN1 Zornitza Stark edited their review of gene: MCOLN1: Added comment: Prenatal presentations with brain abnormalities reported.; Changed rating: GREEN; Changed publications: 33963976
Fetal anomalies v0.2799 MCOLN1 Zornitza Stark edited their review of gene: MCOLN1: Changed rating: RED
Fetal anomalies v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV