| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Surfactant deficiency v0.28 | SFTPD | Matthew Edwards changed review comment from: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.; to: No variants detected by CGGL Royal Brompton to date. Not enough evidence for inclusion currently. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.28 | SFTPD | Matthew Edwards changed review comment from: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.; to: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.26 | SFTPD | Matthew Edwards reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.8 | SFTPD | Louise Daugherty edited their review of gene: SFTPD: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.5 | SFTPD | Anna de Burca Classified gene: SFTPD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.5 | SFTPD | Anna de Burca Added comment: Comment on list classification: No reported mutations in humans. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.5 | SFTPD | Anna de Burca Gene: sftpd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.3 | SFTPD |
Louise Daugherty Source Expert Review Green was added to SFTPD. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Surfactant deficiency v0.2 | SFTPD | Louise Daugherty reviewed gene: SFTPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.1 | SFTPD |
Louise Daugherty gene: SFTPD was added gene: SFTPD was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPD was set to |
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