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Pulmonary alveolar microlithiasis
Gene: SLC34A2
SLC34A2 (solute carrier family 34 member 2)
EnsemblGeneIds (GRCh38): ENSG00000157765
EnsemblGeneIds (GRCh37): ENSG00000157765
OMIM: 604217, Gene2Phenotype
SLC34A2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000157765
EnsemblGeneIds (GRCh37): ENSG00000157765
OMIM: 604217, Gene2Phenotype
SLC34A2 is in 2 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #265100) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 3 p.m. | Last Modified: 29 Dec 2025, 3 p.m.
Panel Version: 1.2
SLC34A2 has been added to the panel for R426 Pulmonary alveolar microlithiasis with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:31 p.m. | Last Modified: 30 Jun 2023, 3:31 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SLC34A2 were changed from to Pulmonary alveolar microlithiasis, OMIM:265100; pulmonary alveolar microlithiasis, MONDO:0009928
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SLC34A2 was added gene: SLC34A2 was added to Pulmonary alveolar microlithiasis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal