Activity
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7 actions
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| DDG2P v6.376 | TELO2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TELO2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TELO2 | Achchuthan Shanmugasundram edited their review of gene: TELO2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TELO2-related syndromic intellectual disability disorder are strong, biallelic_autosomal and undetermined (PMIDs: 27132593, 28944240, 36797513). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01733.; Changed publications to: 36797513, 28944240, 27132593; Changed phenotypes to: OMIM:616954.0, TELO2 Syndromic Intellectual Disability Disorder, TELO2-related syndromic intellectual disability disorder, MONDO:0014848 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TELO2 | Achchuthan Shanmugasundram reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132593, 36797513, 28944240; Phenotypes: TELO2 Syndromic Intellectual Disability Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TELO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TELO2. Mode of pathogenicity for gene TELO2 was changed from Other - please provide details in the comments to Other Publications for gene: TELO2 were updated from 27132593; 28944240 to 27132593; 36797513; 28944240 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.37 | TELO2 | Rebecca Foulger Publications for gene: TELO2 were set to 27132593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TELO2 | Rebecca Foulger reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TELO2 |
Rebecca Foulger gene: TELO2 was added gene: TELO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TELO2 were set to 27132593 Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder Mode of pathogenicity for gene: TELO2 was set to Other - please provide details in the comments |
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