Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.159 | EXTL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EXTL3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EXTL3 | Achchuthan Shanmugasundram edited their review of gene: EXTL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EXTL3-related neuro immuno skeletal dysplasia syndrome are strong, biallelic_autosomal and undetermined (PMID:28132690). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02593.; Changed phenotypes to: OMIM:617425.0, EXTL3-related neuro immuno skeletal dysplasia syndrome, Neuro immuno skeletal Dysplasia Syndrome, MONDO:0044312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXTL3 | Achchuthan Shanmugasundram reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132690; Phenotypes: Neuro immuno skeletal Dysplasia Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EXTL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EXTL3. Mode of pathogenicity for gene EXTL3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | EXTL3 | Rebecca Foulger reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | EXTL3 |
Rebecca Foulger gene: EXTL3 was added gene: EXTL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 28132690 Phenotypes for gene: EXTL3 were set to Neuro immuno skeletal Dysplasia Syndrome Mode of pathogenicity for gene: EXTL3 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||