Activity
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10 actions
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| DDG2P v6.405 | USP14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: USP14 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | USP14 | Achchuthan Shanmugasundram edited their review of gene: USP14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for USP14-related syndromic neurodevelopmental disorder with arthrogryposis are moderate, biallelic_autosomal and undetermined (PMIDs: 35066879, 38469793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03307.; Changed publications to: 35066879, 38469793; Changed phenotypes to: USP14-related syndromic neurodevelopmental disorder with arthrogryposis, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | USP14 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: USP14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.40 | USP14 | Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from DISTAL ARTHROGRYPOSIS to USP14-related syndromic neurodevelopmental disorder with arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.39 | USP14 | Achchuthan Shanmugasundram Publications for gene: USP14 were set to 35066879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.38 | USP14 | Achchuthan Shanmugasundram edited their review of gene: USP14: Changed phenotypes to: USP14-related syndromic neurodevelopmental disorder with arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | USP14 | Achchuthan Shanmugasundram edited their review of gene: USP14: Added comment: The DDG2P confidence category for the disease USP14-related syndromic neurodevelopmental disorder with arthrogryposis is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 38469793;35066879).; Changed rating: GREEN; Changed publications to: 38469793, 35066879; Changed phenotypes to: DISTAL ARTHROGRYPOSIS, USP14-related syndromic neurodevelopmental disorder with arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | USP14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to USP14. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | USP14 | Achchuthan Shanmugasundram reviewed gene: USP14: Rating: RED; Mode of pathogenicity: Other; Publications: 35066879; Phenotypes: DISTAL ARTHROGRYPOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | USP14 |
Achchuthan Shanmugasundram gene: USP14 was added gene: USP14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879 Phenotypes for gene: USP14 were set to DISTAL ARTHROGRYPOSIS Mode of pathogenicity for gene: USP14 was set to Other |
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