Familial pulmonary fibrosis
Gene: SLC7A7EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 8 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: Added publications suggested by expert reviewerCreated: 27 Apr 2017, 3:46 p.m.
Philip Molyneaux (Imperial College)
Associated with Alveolar proteinosis
PMID: 25335805Created: 26 Apr 2017, 9:33 a.m.
Alice Gardham (Genomics England)
2/3 of patients have interstitial lung disease on CTCreated: 9 Feb 2017, 2:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysinuric protein intolerance 222700
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Lysinuric protein intolerance, 222700
- OMIM
- 603593
- Clinvar variants
- Variants in SLC7A7
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SLC7A7 were set to Lysinuric protein intolerance, 222700
Set publications
Louise Daugherty (Genomics England Curator)Publications for SLC7A7 were set to 15331184; 25335805
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)SLC7A7 was created by agardham
Added New Source
Alice Gardham (Genomics England)SLC7A7 was added to Familial pulmonary fibrosispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory