Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.33 | SMAD3 | Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.1 | SMAD3 | Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.1 | SMAD3 | Louise Daugherty Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.0 | SMAD3 | Matthew Edwards edited their review of gene: SMAD3: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v2.0 | SMAD3 | Matthew Edwards reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 613795 Loeys-Dietz syndrome type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.18 | SMAD3 | Louise Daugherty commented on gene: SMAD3: October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.18 | SMAD2 | Louise Daugherty commented on gene: SMAD2: October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.18 | COL5A1 | Louise Daugherty commented on gene: COL5A1: October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.10 | SMAD3 | Louise Daugherty edited their review of gene: SMAD3: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Loeys-Dietz syndrome - is pneumothorax part of the phenotype for LDS caused by variants in these genes? Specialist group to contact Stefan Marciniak/Bart Loeys to confirm this; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | SMAD3 | Louise Daugherty reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.8 | SMAD3 | Louise Daugherty Source NHS GMS was added to SMAD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial | SMAD3 | Olivia Niblock marked SMAD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial | SMAD3 | Olivia Niblock classified SMAD3 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial | SMAD3 | Olivia Niblock commented on SMAD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial | SMAD3 | Stefan Marciniak edited their review of SMAD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial | SMAD3 | Stefan Marciniak reviewed SMAD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||