Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.157 | ERBB3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERBB3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ERBB3 | Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related lethal congenital contracture syndrome are strong, biallelic_autosomal and undetermined (PMID:17701904). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01134. The DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related Hirschprung disease with intestinal pseudo-obstruction are strong, biallelic_autosomal and undetermined (PMID:33497358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02558.; Changed publications to: 17701904, 33497358; Changed phenotypes to: Hirschprung disease with intestinal pseudo-obstruction, ERBB3-related Hirschprung disease with intestinal pseudo-obstruction, MONDO:0011868, MONDO:8000011, OMIM:243180.0, ERBB3-related lethal congenital contracture syndrome, OMIM:607598.0, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.40 | ERBB3 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: ERBB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERBB3 | Achchuthan Shanmugasundram reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17701904; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598, Hirschprung disease with intestinal pseudo-obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ERBB3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3. Mode of pathogenicity for gene ERBB3 was changed from Other - please provide details in the comments to Other Publications for gene: ERBB3 were updated from to 17701904 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ERBB3 | Rebecca Foulger commented on gene: ERBB3: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Hirschprung disease with intestinal pseudo-obstruction. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | ERBB3 | Rebecca Foulger Tag watchlist tag was added to gene: ERBB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | ERBB3 | Rebecca Foulger commented on gene: ERBB3: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERBB3 | Rebecca Foulger reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ERBB3 | Rebecca Foulger Added phenotypes Hirschprung disease with intestinal pseudo-obstruction for gene: ERBB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ERBB3 |
Rebecca Foulger gene: ERBB3 was added gene: ERBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 Mode of pathogenicity for gene: ERBB3 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||