Surfactant deficiency

Gene: SFTPA2

Amber List (moderate evidence)

SFTPA2 (surfactant protein A2)
EnsemblGeneIds (GRCh38): ENSG00000185303
EnsemblGeneIds (GRCh37): ENSG00000185303
OMIM: 178642, Gene2Phenotype
SFTPA2 is in 2 panels

2 reviews

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

I don't know

On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, Only VUSs reported to date . Some reports in literature with quite good evidence. Requires more input and evidence.
Created: 20 Aug 2019, 4:44 p.m. | Last Modified: 20 Aug 2019, 4:44 p.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary fibrosis, idiopathic (OMIM: 178500)

Publications

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

Louise Daugherty (Genomics England Curator)

I don't know

Comment on publications: added publications suggested by external review Matthew Edwards
Created: 21 Aug 2019, 11:22 a.m. | Last Modified: 21 Aug 2019, 11:22 a.m.
Panel Version: 0.12
Comment on list classification: Awaiting feeback/evidence from GOSH, during the GMS Respiratory Specialist Test Group webex call 18th Jan 2019
Created: 16 May 2019, 1:14 p.m.
Gene added to panel as suggestion from GMS Respiratory Specialist Test Group webex call 18th Jan 2019- To check with GOSH regarding inclusion/rating before versioning panel
Sources: Expert list
Created: 21 Jan 2019, 10:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary fibrosis, idiopathic, 178500

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pulmonary fibrosis, idiopathic, OMIM:178500
OMIM
178642
Clinvar variants
Variants in SFTPA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500

21 Aug 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SFTPA2 were set to

16 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: sftpa2 has been classified as Amber List (Moderate Evidence).

21 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: SFTPA2 was added gene: SFTPA2 was added to Surfactant deficiency. Sources: Expert list Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic, 178500 Review for gene: SFTPA2 was set to AMBER