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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. SFTPA2
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Pulmonary Fibrosis_Interstitial Lung Disease

Gene: SFTPA2

Green List (high evidence)
SFTPA2 (surfactant protein A2)
EnsemblGeneIds (GRCh38): ENSG00000185303
EnsemblGeneIds (GRCh37): ENSG00000185303
OMIM: 178642, Gene2Phenotype
SFTPA2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported.
Created: 21 Oct 2021, 10:15 p.m. | Last Modified: 21 Oct 2021, 10:15 p.m.
Panel Version: 0.9428

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary fibrosis, idiopathic, MIM# 178500

Publications

Created: 21 Oct 2021, 10:15 p.m.
Last Modified: 21 Oct 2021, 10:15 p.m.
Panel version: Imported from Mendeliome panel version 0.9428

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
178642
Clinvar variants
Variants in SFTPA2
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SFTPA2 was added gene: SFTPA2 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SFTPA2 was set to Unknown