Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v2.8 TUBB2B Arina Puzriakova Phenotypes for gene: TUBB2B were changed from POLYMICROGYRIA ASYMMETRIC to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Fetal anomalies v0.161 TUBB2B Rebecca Foulger edited their review of gene: TUBB2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.9 TUBB2B Rebecca Foulger commented on gene: TUBB2B: DDG2P rating in original PAGE list: Confirmed for POLYMICROGYRIA ASYMMETRIC
Fetal anomalies v0.3 TUBB2B Rebecca Foulger reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 TUBB2B Rebecca Foulger gene: TUBB2B was added
gene: TUBB2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC