Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Surfactant deficiency v1.9 | SFTPA2 | Ivone Leong Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surfactant deficiency v0.12 | SFTPA2 | Louise Daugherty Added comment: Comment on publications: added publications suggested by external review Matthew Edwards | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surfactant deficiency v0.12 | SFTPA2 | Louise Daugherty Publications for gene: SFTPA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surfactant deficiency v0.11 | SFTPA2 | Matthew Edwards reviewed gene: SFTPA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19100526, 26568241; Phenotypes: Pulmonary fibrosis, idiopathic (OMIM: 178500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surfactant deficiency v0.10 | SFTPA2 | Louise Daugherty Classified gene: SFTPA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surfactant deficiency v0.10 | SFTPA2 | Louise Daugherty Added comment: Comment on list classification: Awaiting feeback/evidence from GOSH, during the GMS Respiratory Specialist Test Group webex call 18th Jan 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surfactant deficiency v0.10 | SFTPA2 | Louise Daugherty Gene: sftpa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Surfactant deficiency v0.9 | SFTPA2 |
Louise Daugherty gene: SFTPA2 was added gene: SFTPA2 was added to Surfactant deficiency. Sources: Expert list Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic, 178500 Review for gene: SFTPA2 was set to AMBER Added comment: Gene added to panel as suggestion from GMS Respiratory Specialist Test Group webex call 18th Jan 2019- To check with GOSH regarding inclusion/rating before versioning panel Sources: Expert list |