Activity
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9 actions
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| DDG2P v6.17 | GSPT2 | Achchuthan Shanmugasundram edited their review of gene: GSPT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GSPT2-related intellectual disability are limited, monoallelic_X_hemizygous and loss of function (PMIDs: 28414775, 31555424). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01434.; Changed publications to: 31555424, 28414775; Changed phenotypes to: GSPT2-related intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | GSPT2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to GSPT2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v6.5 | GSPT2 | Achchuthan Shanmugasundram edited their review of gene: GSPT2: Added comment: This gene has now been downgraded to 'limited' rating on the DD panel in Gene2Phenotype resource. So, it will be demoted to red on this panel in the next GMS update.; Changed rating: RED; Changed phenotypes to: GSPT2-related intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | GSPT2 | Eleanor Williams commented on gene: GSPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | GSPT2 | Eleanor Williams Tag gene-checked tag was added to gene: GSPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GSPT2 | Achchuthan Shanmugasundram reviewed gene: GSPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: XL INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GSPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GSPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | GSPT2 | Rebecca Foulger reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GSPT2 |
Rebecca Foulger gene: GSPT2 was added gene: GSPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY |
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