| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Surfactant deficiency v0.27 | TERT | Louise Daugherty Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.26 | TERT | Matthew Edwards reviewed gene: TERT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.8 | TERT | Louise Daugherty edited their review of gene: TERT: 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, so rating was downgraded to Red; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.6 | TERT | Anna de Burca Classified gene: TERT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.6 | TERT | Anna de Burca Added comment: Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.6 | TERT | Anna de Burca Gene: tert has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.3 | TERT |
Louise Daugherty Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Surfactant deficiency v0.2 | TERT | Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.1 | TERT |
Louise Daugherty gene: TERT was added gene: TERT was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: TERT was set to |
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