Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability v6.38 AFF2 Sarah Leigh edited their review of gene: AFF2: Added comment: Intellectual developmental disorder, X-linked 109 (OMIM:3095480, is also associated with deletions of AFF2. Stettner et al. (PMID: 21739600) describe 2 brothers with OMIM:3095480, who have a 121 to 145-kb intragenic deletion within AFF2, while Sahoo et al (PMID: 22065534) report two unrelated males with OMIM:3095480; Patient 1 has a 240 kb intragenic deletion resulting the loss of exons 2-4 of AFF2 and Patient 2 has a 499 kb deletion that removes the exons 1-2.; Changed publications to: 21739600, 22065534
Intellectual disability v3.835 RTTN Ivone Leong Source: Expert Review Red was removed from gene: RTTN
Intellectual disability v2.468 RTTN Louise Daugherty Source Victorian Clinical Genetics Services was added to RTTN.
Intellectual disability RTTN Louise Daugherty commented on RTTN
Intellectual disability TTN Ellen McDonagh Added gene to panel
Intellectual disability RTTN BRIDGE consortium edited their review of RTTN
Intellectual disability RTTN BRIDGE consortium edited their review of RTTN
Intellectual disability RTTN BRIDGE consortium reviewed RTTN