Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.403 | UFSP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: UFSP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UFSP2 | Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFSP2-related developmental delay and epilepsy are limited, biallelic_autosomal and undetermined (PMID:33473208). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03164.; Changed phenotypes to: OMIM:620028.0, UFSP2-related developmental delay and epilepsy, MONDO:0031052, UFSP2-associated developmental delay and epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UFSP2 | Achchuthan Shanmugasundram reviewed gene: UFSP2: Rating: RED; Mode of pathogenicity: Other; Publications: 33473208; Phenotypes: UFSP2-associated developmental delay and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UFSP2 |
Achchuthan Shanmugasundram gene: UFSP2 was added gene: UFSP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFSP2 were set to 33473208 Phenotypes for gene: UFSP2 were set to UFSP2-associated developmental delay and epilepsy Mode of pathogenicity for gene: UFSP2 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||