Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Intellectual disability v4.28 TUBB2B Arina Puzriakova Phenotypes for gene: TUBB2B were changed from Polymicrogyria, symmetric or asymmetric, 610031; POLYMICROGYRIA ASYMMETRIC (PMGA) to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Intellectual disability v2.876 MED12L Eleanor Williams Added comment: Comment on list classification: Rating Amber. CNVs encompass other genes. Two cases with SNVs have moderate/severe ID and one of these also has a VUS in TUBB2B. The other two SNV cases have mild ID.
Intellectual disability v2.468 TUBB2B Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBB2B.
Intellectual disability TUBB2B BRIDGE consortium edited their review of TUBB2B
Intellectual disability TUBB2B BRIDGE consortium edited their review of TUBB2B
Intellectual disability TUBB2B BRIDGE consortium reviewed TUBB2B