Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.375 | TDRD7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TDRD7 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TDRD7 | Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TDRD7-related cataract with or without azoospermia are moderate, biallelic_autosomal and loss of function (PMIDs: 21436445, 28418495, 31048812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01467.; Changed publications to: 21436445, 31048812, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887, TDRD7-related cataract with or without azoospermia, OMIM:613887, OMIM:613887.0, MONDO:0013484 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TDRD7 | Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category for the disease TDRD7-related cataract with or without azoospermia, OMIM:613887 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;uncertain (PMID: 21436445;28418495;31048812).; Changed rating: GREEN; Changed publications to: 31048812, 21436445, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, OMIM:613887, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | TDRD7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TDRD7. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TDRD7 | Achchuthan Shanmugasundram reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TDRD7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TDRD7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TDRD7 | Rebecca Foulger reviewed gene: TDRD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TDRD7 |
Rebecca Foulger gene: TDRD7 was added gene: TDRD7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDRD7 were set to CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887 Mode of pathogenicity for gene: TDRD7 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||