Surfactant deficiency
Gene: SFTPA2
On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, Only VUSs reported to date . Some reports in literature with quite good evidence. Requires more input and evidence.Created: 20 Aug 2019, 4:44 p.m. | Last Modified: 20 Aug 2019, 4:44 p.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary fibrosis, idiopathic (OMIM: 178500)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: added publications suggested by external review Matthew EdwardsCreated: 21 Aug 2019, 11:22 a.m. | Last Modified: 21 Aug 2019, 11:22 a.m.
Panel Version: 0.12
Comment on list classification: Awaiting feeback/evidence from GOSH, during the GMS Respiratory Specialist Test Group webex call 18th Jan 2019Created: 16 May 2019, 1:14 p.m.
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 listCreated: 21 Jan 2019, 10:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary fibrosis, idiopathic, 178500
Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500
Publications for gene: SFTPA2 were set to
Gene: sftpa2 has been classified as Amber List (Moderate Evidence).
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