Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.12 | COL5A1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COL5A1. Tag Q3_24_NHS_review was removed from gene: COL5A1. Tag Q3_24_expert_review was removed from gene: COL5A1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.12 | COL5A1 | Achchuthan Shanmugasundram reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | COL5A1 | Eleanor Williams Classified gene: COL5A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | COL5A1 | Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a provisional recommendation to green if it is decided this phenotype is appropriate for the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | COL5A1 | Eleanor Williams Gene: col5a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | COL5A1 | Eleanor Williams Classified gene: COL5A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | COL5A1 | Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a provisional recommendation to green if it is decided this phenotype is appropriate for the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | COL5A1 | Eleanor Williams Gene: col5a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.2 | COL5A1 |
Eleanor Williams changed review comment from: Adding this gene for consideration for this panel following review of the gene on the Limb disorders panel. This 'Paediatric disorders - additional genes' panel appears a better fit than Limb disorders if the condition is to be included in the Paediatric disorders R27 test analyses. However, consideration of whether the EDS phenotype is the within the scope of the Paediatric disorders panel needs to be reviewed before promoting this gene to green. Sources: Expert Review; to: Adding this gene for consideration for this panel following review of the gene by Tracy Lester (Genetics laboratory, Oxford UK) on the Limb disorders panel. The 'Paediatric disorders - additional genes' panel appears a better fit than Limb disorders if the condition is to be included in the Paediatric disorders R27 superpanel test analyses. However, consideration of whether the EDS phenotype is the within the scope of the Paediatric disorders panel needs to be reviewed before promoting this gene to green. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.2 | COL5A1 |
Eleanor Williams Tag Q3_24_promote_green tag was added to gene: COL5A1. Tag Q3_24_NHS_review tag was added to gene: COL5A1. Tag Q3_24_expert_review tag was added to gene: COL5A1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.2 | COL5A1 |
Eleanor Williams gene: COL5A1 was added gene: COL5A1 was added to Paediatric disorders - additional genes. Sources: Expert Review Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL5A1 were set to 21611149; 20847697 Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000; Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567 Review for gene: COL5A1 was set to AMBER Added comment: Adding this gene for consideration for this panel following review of the gene on the Limb disorders panel. This 'Paediatric disorders - additional genes' panel appears a better fit than Limb disorders if the condition is to be included in the Paediatric disorders R27 test analyses. However, consideration of whether the EDS phenotype is the within the scope of the Paediatric disorders panel needs to be reviewed before promoting this gene to green. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||