Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SIN3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SIN3A. Tag Q3_24_NHS_review was removed from gene: SIN3A. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SIN3A | Achchuthan Shanmugasundram edited their review of gene: SIN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | SIN3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.95 | SIN3A | Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.94 | SIN3A | Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from SYNDROMIC INTELLECTUAL DISABILITY; Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.93 | SIN3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SIN3A. Tag Q3_24_NHS_review tag was added to gene: SIN3A. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SIN3A | Achchuthan Shanmugasundram commented on gene: SIN3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SIN3A | Lyn Chitty reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM:613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | SIN3A |
Achchuthan Shanmugasundram Source NHS GMS was added to SIN3A. Mode of inheritance for gene SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Witteveen-Kolk syndrome, OMIM:613406 for gene: SIN3A Publications for gene: SIN3A were updated from to 27399968 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SIN3A | Rebecca Foulger reviewed gene: SIN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SIN3A |
Rebecca Foulger gene: SIN3A was added gene: SIN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||