| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Surfactant deficiency v1.7 | SFTPB | Ivone Leong Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.22 | SFTPB | Louise Daugherty commented on gene: SFTPB: 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 v0.22 | SFTPB | Louise Daugherty changed review comment from: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust); to: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.22 | SFTPB | Louise Daugherty commented on gene: SFTPB: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.22 | SFTPB | Louise Daugherty Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary 1, 265120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.21 | SFTPB | Louise Daugherty Publications for gene: SFTPB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.20 | SFTPB | Louise Daugherty Mode of inheritance for gene: SFTPB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.11 | SFTPB | Matthew Edwards reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 12501227, 10712351; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1 (OMIM: 265120); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.3 | SFTPB |
Louise Daugherty Source Expert Review Green was added to SFTPB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Surfactant deficiency v0.2 | SFTPB | Louise Daugherty reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Surfactant deficiency v0.1 | SFTPB |
Louise Daugherty gene: SFTPB was added gene: SFTPB was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPB was set to |
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