Activity
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24 actions
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| DDG2P v6.424 | TRIT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRIT1 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TRIT1 | Achchuthan Shanmugasundram edited their review of gene: TRIT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRIT1-related tRNA isopentenyltransferase deficiency are limited, biallelic_autosomal and undetermined (PMIDs: 24901367, 28185376, 31140736, 32088416, 32948376). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01848.; Changed rating: RED; Changed publications to: 24901367, 32088416, 32948376, 28185376, 31140736; Changed phenotypes to: MONDO:0054742, OMIM:617873.0, TRIT1-related tRNA isopentenyltransferase deficiency, tRNA isopentenyltransferase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | TRIT1 |
Achchuthan Shanmugasundram Source Expert Review Red was added to TRIT1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.73 | TRIT1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TRIT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.23 | KRIT1 | Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.23 | KRIT1 | Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.23 | KRIT1 | Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.23 | KRIT1 | Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIT1 | Achchuthan Shanmugasundram reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32088416, 28185376, 32948376, 31140736, 24901367; Phenotypes: tRNA isopentenyltransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIT1 | Achchuthan Shanmugasundram reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, OMIM:615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRIT1 | Achchuthan Shanmugasundram reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRIT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIT1. Publications for gene: TRIT1 were updated from 24901367 to 32088416; 28185376; 32948376; 31140736; 24901367 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RIT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RIT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | KRIT1 | Rebecca Foulger commented on gene: KRIT1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | KRIT1 |
Rebecca Foulger Source Expert Review Green was added to KRIT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | KRIT1 | Rebecca Foulger commented on gene: KRIT1: 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 | KRIT1 | Rebecca Foulger commented on gene: KRIT1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | KRIT1 |
Rebecca Foulger Source Expert Review Amber was added to KRIT1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | TRIT1 | Rebecca Foulger reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RIT1 | Rebecca Foulger reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KRIT1 | Rebecca Foulger reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TRIT1 |
Rebecca Foulger gene: TRIT1 was added gene: TRIT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to 24901367 Phenotypes for gene: TRIT1 were set to tRNA isopentenyltransferase deficiency Mode of pathogenicity for gene: TRIT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RIT1 |
Rebecca Foulger gene: RIT1 was added gene: RIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RIT1 were set to 23791108 Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8 615355 Mode of pathogenicity for gene: RIT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KRIT1 |
Rebecca Foulger gene: KRIT1 was added gene: KRIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860 |
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