Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.120 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Fetal anomalies v0.120 ALX1 Zornitza Stark Gene: alx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.120 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from FRONTONASAL DYSPLASIA TYPE 3 to Frontonasal dysplasia 3, MIM#613456
Fetal anomalies v0.119 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Fetal anomalies v0.118 ALX1 Zornitza Stark changed review comment from: Two families reported with balletic variants in this gene and frontonasal dysplasia. Unclear whether intellectual disability is truly part of the phenotype or whether intellectual ability difficult to assess in presence of severe craniofacial abnormality.; to: Two families reported with balletic variants in this gene and frontonasal dysplasia, supportive animal models.
Fetal anomalies v0.118 ALX1 Zornitza Stark edited their review of gene: ALX1: Changed rating: GREEN
Fetal anomalies v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3