This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Lysinuric protein intolerance, MIM#222700
- Hyper-inflammatory response of macrophages
- Bleeding tendency
- Alverolar proteinosis
- Normal NK cell function
- Lysinuric protein intolerance
- OMIM
- 603593
- Clinvar variants
- Variants in SLC7A7
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Familial pulmonary fibrosis
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Childhood interstitial lung disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SLC7A7 was added gene: SLC7A7 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM#222700; Hyper-inflammatory response of macrophages; Bleeding tendency; Alverolar proteinosis; Normal NK cell function; Lysinuric protein intolerance