Interstitial Lung Disease
Gene: SFTPBEnsemblGeneIds (GRCh38): ENSG00000168878
EnsemblGeneIds (GRCh37): ENSG00000168878
OMIM: 178640, Gene2Phenotype
SFTPB is in 7 panels
2 reviews
Suzanna Lindsey-Temple (Liverpool Hospital)
Well established gene-disease association.Created: 5 Nov 2021, 1:05 a.m. | Last Modified: 5 Nov 2021, 1:05 a.m.
Panel Version: 0.154
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported.Created: 21 Oct 2021, 10:17 p.m. | Last Modified: 21 Oct 2021, 10:17 p.m.
Panel Version: 0.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
- OMIM
- 178640
- Clinvar variants
- Variants in SFTPB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sftpb has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SFTPB were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SFTPB was added gene: SFTPB was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SFTPB was set to Unknown