Familial pulmonary fibrosis
Gene: SFTPCComment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:43 p.m.
Well established variant associated with ILD, also associated with Alveolar proteinosisCreated: 26 Apr 2017, 9:36 a.m.
Offered by UKGTNCreated: 8 Feb 2017, 1:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 2 610913
Publications
Variants in this GENE are reported as part of current diagnostic practice
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2, 610913; Interstitial Lung Disease; Pulmonary alveolar proteinosis
Mode of inheritance for SFTPC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2 610913
Publications for SFTPC were set to 20301408; 11207353
SFTPC was added to Familial pulmonary fibrosispanel. Source: Radboud University Medical Center, Nijmegen
SFTPC was added to Familial pulmonary fibrosispanel. Source: UKGTN
SFTPC was added to Familial pulmonary fibrosispanel. Source: Emory Genetics Laboratory
SFTPC was added to Familial pulmonary fibrosispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SFTPC was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing
SFTPC was created by ellenmcdonagh