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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 |
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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) |
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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 |