Familial pulmonary fibrosis

Gene: SFTPB

Comment 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

Green List (high evidence)

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

• PMID: 8163685
• 15331184

Green List (high evidence)

Agree some survivors and should be included, also has association with Alveolar proteinosis

Created: 26 Apr 2017, 9:35 a.m.

I don't know

Comment on list classification: Some survive in to later life with chronic interstitial lung disease

Created: 9 Feb 2017, 2:51 p.m.

Usually severe neonatal course -usually fatal. ?relevant phenotype

Created: 8 Feb 2017, 4:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1 265120

Publications

• 8163685