Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NRXN2 | Achchuthan Shanmugasundram edited their review of gene: NRXN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NRXN2-related autism are limited, monoallelic_autosomal and loss of function (PMIDs: 21424692, 36923655, 38739110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00534.; Changed publications to: 38739110, 21424692, 36923655; Changed phenotypes to: AUTISM, OMIM:209850, OMIM:209850.0, NRXN2-related autism, MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | NRXN2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to NRXN2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | NRXN2 | Achchuthan Shanmugasundram edited their review of gene: NRXN2: Added comment: This gene has now been downgraded to 'limited' rating on the DD panel in Gene2Phenotype resource. So, it will be demoted to red on this panel in the next GMS update.; Changed rating: RED; Changed phenotypes to: AUTISM, OMIM:209850, NRXN2-related autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | NRXN2 | Eleanor Williams Tag gene-checked tag was added to gene: NRXN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | NRXN2 | Eleanor Williams commented on gene: NRXN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRXN2 | Achchuthan Shanmugasundram reviewed gene: NRXN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NRXN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NRXN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NRXN2 | Rebecca Foulger reviewed gene: NRXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NRXN2 |
Rebecca Foulger gene: NRXN2 was added gene: NRXN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRXN2 were set to AUTISM 209850 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||