Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | CSGALNACT1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CSGALNACT1. Tag Q1_25_ promote_green was removed from gene: CSGALNACT1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | CSGALNACT1 | Achchuthan Shanmugasundram edited their review of gene: CSGALNACT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | CSGALNACT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CSGALNACT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.74 | CSGALNACT1 | Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CSGALNACT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.74 | CSGALNACT1 | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CSGALNACT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | CSGALNACT1 | Achchuthan Shanmugasundram commented on gene: CSGALNACT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | CSGALNACT1 | Elizabeth Scotchman reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31325655, 31705726; Phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM#618870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | CSGALNACT1 |
Achchuthan Shanmugasundram gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSGALNACT1 were set to 31705726; 31325655 Phenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, OMIM:618870 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||