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Mendeliome

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pulmonary alveolar microlithiasis (PULAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare.

Multiple unrelated families reported.
Created: 1 Apr 2022, 6:52 a.m. | Last Modified: 1 Apr 2022, 6:52 a.m.
Panel Version: 0.12439

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary alveolar microlithiasis, MIM# 265100

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary alveolar microlithiasis, MIM# 265100
OMIM
604217
Clinvar variants
Variants in SLC34A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc34a2 has been classified as Green List (High Evidence).

1 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC34A2 were changed from to Pulmonary alveolar microlithiasis, MIM# 265100

1 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC34A2 were set to

1 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC34A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC34A2 was added gene: SLC34A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC34A2 was set to Unknown