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  2. Childhood interstitial lung disease
  3. SFTPA1
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Childhood interstitial lung disease

Gene: SFTPA1

Green List (high evidence)
SFTPA1 (surfactant protein A1)
EnsemblGeneIds (GRCh38): ENSG00000122852
EnsemblGeneIds (GRCh37): ENSG00000122852
OMIM: 178630, Gene2Phenotype
SFTPA1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

SFTPA1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619611) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Interstitial lung disease 1, OMIM:619611; interstitial lung disease 1, MONDO:0030608

Created: 30 Dec 2025, 7:22 p.m.
Last Modified: 30 Dec 2025, 7:22 p.m.
Panel version: 0.5

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Interstitial lung disease 1, OMIM:619611
  • interstitial lung disease 1, MONDO:0030608
OMIM
178630
Clinvar variants
Variants in SFTPA1
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SFTPA1 was added gene: SFTPA1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SFTPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SFTPA1 were set to Interstitial lung disease 1, OMIM:619611; interstitial lung disease 1, MONDO:0030608