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DDG2P v3.12 | THAP1 | Achchuthan Shanmugasundram reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30237473; Phenotypes: DYSTONIA 6, TORSION, OMIM:602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | THAP1 | Achchuthan Shanmugasundram Publications for gene: THAP1 were updated from to 30237473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.131 | THAP1 | Rebecca Foulger commented on gene: THAP1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DYSTONIA 6, TORSION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.77 | THAP1 |
Rebecca Foulger Source Expert Review Green was added to THAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v1.76 | THAP1 | Rebecca Foulger commented on gene: THAP1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | THAP1 | Rebecca Foulger commented on gene: THAP1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DYSTONIA 6, TORSION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.94 | THAP1 |
Rebecca Foulger Source Expert Review Amber was added to THAP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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DDG2P v0.2 | THAP1 | Rebecca Foulger reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | THAP1 |
Rebecca Foulger gene: THAP1 was added gene: THAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION 602629 |