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  2. Pulmonary fibrosis familial
  3. SFTPB
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Pulmonary fibrosis familial

Gene: SFTPB

Green List (high evidence)
SFTPB (surfactant protein B)
EnsemblGeneIds (GRCh38): ENSG00000168878
EnsemblGeneIds (GRCh37): ENSG00000168878
OMIM: 178640, Gene2Phenotype
SFTPB is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Created: 16 Feb 2022, 4:02 p.m.
Last Modified: 16 Feb 2022, 4:02 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120
OMIM
178640
Clinvar variants
Variants in SFTPB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SFTPB was added gene: SFTPB was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFTPB were set to 8163685; 15331184 Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120