Surfactant deficiency

Gene: SFTPB

Green List (high evidence)

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

2 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel. Multiple reports in literature and ClinVar. Strong evidence for association.
Created: 20 Aug 2019, 4:32 p.m. | Last Modified: 20 Aug 2019, 4:32 p.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1 (OMIM: 265120)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating.
Created: 21 Aug 2019, 1:08 p.m. | Last Modified: 21 Aug 2019, 1:08 p.m.
Panel Version: 0.22
Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Created: 21 Aug 2019, 1:07 p.m. | Last Modified: 21 Aug 2019, 1:08 p.m.
Panel Version: 0.22
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SFTPB; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Surfactant metabolism dysfunction gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 2:58 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120

21 Aug 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary 1, 265120

21 Aug 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SFTPB were set to

21 Aug 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SFTPB was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SFTPB. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SFTPB was added gene: SFTPB was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPB was set to