Familial pulmonary fibrosis
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
2 reviews
Philip Molyneaux (Imperial College)
Variants identified in families with Pulmonary alveolar microlithiasisCreated: 26 Apr 2017, 9:30 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Pulmonary alveolar microlithiasis, 265100
- OMIM
- 604217
- Clinvar variants
- Variants in SLC34A2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
27 Apr 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
27 Apr 2017, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SLC34A2 were set to Pulmonary alveolar microlithiasis, 265100
9 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
9 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
9 Feb 2017, Gel status: 0
Created
Alice Gardham (Genomics England)SLC34A2 was created by agardham
9 Feb 2017, Gel status: 1
Added New Source
Alice Gardham (Genomics England)SLC34A2 was added to Familial pulmonary fibrosispanel. Sources: Literature,Radboud University Medical Center, Nijmegen