Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v6.152 PLXNA1 Arina Puzriakova Added phenotypes Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 for gene: PLXNA1
Fetal anomalies v6.150 PLXNA1 Arina Puzriakova edited their review of gene: PLXNA1: Changed rating: GREEN
Fetal anomalies v6.149 PLXNA1 Arina Puzriakova commented on gene: PLXNA1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 PLXNA1 Arina Puzriakova commented on gene: PLXNA1
Fetal anomalies v6.147 PLXNA1 Vicki Harrison reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 34054129; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.143 PLXNA1 Arina Puzriakova gene: PLXNA1 was added
gene: PLXNA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal