Activity
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10 actions
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| Surfactant deficiency v1.8 | SFTPC | Ivone Leong Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.25 | SFTPC | Louise Daugherty commented on gene: SFTPC: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.25 | SFTPC | Louise Daugherty commented on gene: SFTPC: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.25 | SFTPC | Louise Daugherty Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary 2, 610913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.24 | SFTPC | Louise Daugherty Publications for gene: SFTPC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.23 | SFTPC | Louise Daugherty Mode of inheritance for gene: SFTPC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.11 | SFTPC | Matthew Edwards reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11207353, 19443464; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 (OMIM: 610913); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.3 | SFTPC |
Louise Daugherty Source Expert Review Green was added to SFTPC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Surfactant deficiency v0.2 | SFTPC | Louise Daugherty reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.1 | SFTPC |
Louise Daugherty gene: SFTPC was added gene: SFTPC was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPC was set to |
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