Childhood interstitial lung disease

Gene: SLC34A2

Green List (high evidence)

SLC34A2 (solute carrier family 34 member 2)
EnsemblGeneIds (GRCh38): ENSG00000157765
EnsemblGeneIds (GRCh37): ENSG00000157765
OMIM: 604217, Gene2Phenotype
SLC34A2 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

SLC34A2 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 #265100) 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
pulmonary alveolar microlithiasis, MONDO:0009928; Pulmonary alveolar microlithiasis, OMIM:265100

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pulmonary alveolar microlithiasis, OMIM:265100
  • pulmonary alveolar microlithiasis, MONDO:0009928
OMIM
604217
Clinvar variants
Variants in SLC34A2
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: SLC34A2 was added gene: SLC34A2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis, OMIM:265100; pulmonary alveolar microlithiasis, MONDO:0009928