Childhood interstitial lung disease
Gene: SLC7A7
SLC7A7 (solute carrier family 7 member 7)
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 9 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
SLC7A7 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 #222700) 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
lysinuric protein intolerance, MONDO:0009109; Lysinuric protein intolerance, OMIM:222700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Lysinuric protein intolerance, OMIM:222700
- lysinuric protein intolerance, MONDO:0009109
- OMIM
- 603593
- Clinvar variants
- Variants in SLC7A7
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood interstitial lung disease
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Familial pulmonary fibrosis
- COVID-19 research
- Hyperammonaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Likely inborn error of metabolism
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: SLC7A7 was added gene: SLC7A7 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, OMIM:222700; lysinuric protein intolerance, MONDO:0009109