Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.423 | MIR184 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MIR184 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MIR184 | Achchuthan Shanmugasundram edited their review of gene: MIR184: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MIR184-related keratoconus with cataract (EDICT syndrome) are definitive, monoallelic_autosomal and undetermined (PMIDs: 21996275, 23833072, 24138095, 25373792, 27195078). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01111.; Changed rating: GREEN; Changed publications to: 27195078, 21996275, 25373792, 24138095, 23833072; Changed phenotypes to: MONDO:0013678, KERATOCONUS WITH CATARACT, EDICT SYNDROME, OMIM:614303, OMIM:614303.0, MIR184-related keratoconus with cataract (EDICT syndrome) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | MIR184 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MIR184. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | MIR184 | Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIR184 | Achchuthan Shanmugasundram reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: Other; Publications: 24138095, 23833072, 27195078, 25373792, 21996275; Phenotypes: EDICT SYNDROME, OMIM:614303, KERATOCONUS WITH CATARACT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MIR184 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MIR184 was changed from Other - please provide details in the comments to Other Publications for gene: MIR184 were updated from 21996275 to 24138095; 23833072; 21996275; 27195078; 25373792 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MIR184 | Rebecca Foulger reviewed gene: MIR184: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MIR184 |
Rebecca Foulger gene: MIR184 was added gene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR184 were set to 21996275 Phenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT Mode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||