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Familial pulmonary fibrosis v1.22 SFTPB Arina Puzriakova Added comment: 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.
Familial pulmonary fibrosis v1.22 SFTPB Arina Puzriakova Mode of inheritance for gene: SFTPB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis v1.9 SFTPB Helen Savage reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8163685, 15331184; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis SFTPB Philip Molyneaux reviewed SFTPB
Familial pulmonary fibrosis SFTPB Alice Gardham marked SFTPB as ready
Familial pulmonary fibrosis SFTPB Alice Gardham classified SFTPB as green
Familial pulmonary fibrosis SFTPB Alice Gardham classified SFTPB as amber
Familial pulmonary fibrosis SFTPB Alice Gardham reviewed SFTPB