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  3. ABCA3
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Childhood interstitial lung disease

Gene: ABCA3

Green List (high evidence)
ABCA3 (ATP binding cassette subfamily A member 3)
EnsemblGeneIds (GRCh38): ENSG00000167972
EnsemblGeneIds (GRCh37): ENSG00000167972
OMIM: 601615, Gene2Phenotype
ABCA3 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

ABCA3 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 #610921) 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921; interstitial lung disease due to ABCA3 deficiency, MONDO:0012582

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • interstitial lung disease due to ABCA3 deficiency, MONDO:0012582
  • Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921
OMIM
601615
Clinvar variants
Variants in ABCA3
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: ABCA3 was added gene: ABCA3 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA3 were set to interstitial lung disease due to ABCA3 deficiency, MONDO:0012582; Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921