Childhood interstitial lung disease
Gene: SLC34A2EnsemblGeneIds (GRCh38): ENSG00000157765
EnsemblGeneIds (GRCh37): ENSG00000157765
OMIM: 604217, Gene2Phenotype
SLC34A2 is in 3 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
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
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