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| DDG2P v3.12 | TBL1XR1 | Achchuthan Shanmugasundram reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25425123, 25102098, 29777588, 30365874, 26769062, 28687524, 23160955; Phenotypes: Pierpont syndrome, OMIM:602342, Intellectual disability with autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBL1XR1 | Achchuthan Shanmugasundram Publications for gene: TBL1XR1 were updated from 28687524; 26769062; 30365874 to 25425123; 25102098; 29777588; 30365874; 26769062; 28687524; 23160955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBL1XR1 | Rebecca Foulger reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TBL1XR1 |
Rebecca Foulger Added phenotypes Pierpont syndrome for gene: TBL1XR1 Publications for gene TBL1XR1 were changed from 23160955; 25425123 to 28687524; 26769062; 30365874 |
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| DDG2P v0.1 | TBL1XR1 |
Rebecca Foulger gene: TBL1XR1 was added gene: TBL1XR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBL1XR1 were set to 23160955; 25425123 Phenotypes for gene: TBL1XR1 were set to Intellectual disability with autism spectrum disorder |
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