Familial pulmonary fibrosis
Gene: SFTPBComment on mode of inheritance: Updated MOI from 'monoallelic' to 'biallelic' in line with comments by Helen Savage highlighting there is no evidence of heterozygous variants being associated with disease.Created: 20 Jan 2022, 2:35 p.m. | Last Modified: 20 Jan 2022, 2:35 p.m.
Panel Version: 1.22
Reviewing as the two existing referenced publications support biallelic (recessive) inheritance, not monoallelic (dominant) inheritance. This is consistent with information on OMIM and Genetics Home Reference. I was unable to find evidence for monoallelic inheritance in the literature.Created: 7 Apr 2020, 12:43 p.m. | Last Modified: 7 Apr 2020, 12:43 p.m.
Panel Version: 1.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1, 265120
Publications
Agree some survivors and should be included, also has association with Alveolar proteinosisCreated: 26 Apr 2017, 9:35 a.m.
Comment on list classification: Some survive in to later life with chronic interstitial lung diseaseCreated: 9 Feb 2017, 2:51 p.m.
Usually severe neonatal course -usually fatal. ?relevant phenotypeCreated: 8 Feb 2017, 4:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1 265120
Publications
Mode of inheritance for gene: SFTPB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Mode of inheritance for SFTPB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120
Publications for SFTPB were set to 8163685; 15331184
This gene has been classified as Green List (High Evidence).
Publications for SFTPB were set to 8163685
This gene has been classified as Amber List (Moderate Evidence).
SFTPB was added to Familial pulmonary fibrosispanel. Source: Radboud University Medical Center, Nijmegen
SFTPB was added to Familial pulmonary fibrosispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
SFTPB was added to Familial pulmonary fibrosispanel. Source: UKGTN
SFTPB was added to Familial pulmonary fibrosispanel. Source: Emory Genetics Laboratory
SFTPB was created by ellenmcdonagh
SFTPB was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing