Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 TBL1XR1 Louise Daugherty reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TBL1XR1 Louise Daugherty Publications for gene TBL1XR1 were updated from to 30847515
Severe Paediatric Disorders v0.10 TBL1XR1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342 for gene: TBL1XR1
Severe Paediatric Disorders v0.9 TBL1XR1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342 for gene: TBL1XR1
Severe Paediatric Disorders v0.9 TBL1XR1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342 for gene: TBL1XR1
Severe Paediatric Disorders v0.8 TBL1XR1 Louise Daugherty Added phenotypes Pierpont syndrome, 602342; Mental retardation, autosomal dominant 41, 616944 for gene: TBL1XR1
Severe Paediatric Disorders v0.8 TBL1XR1 Louise Daugherty Mode of inheritance for gene TBL1XR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342 for gene: TBL1XR1
Severe Paediatric Disorders v0.7 TBL1XR1 Louise Daugherty Source Next Generation Children Project was added to TBL1XR1.
Severe Paediatric Disorders v0.5 TBL1XR1 Louise Daugherty Source Expert Review Green was added to TBL1XR1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TBL1XR1 Louise Daugherty gene: TBL1XR1 was added
gene: TBL1XR1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TBL1XR1 was set to