1. Panels
  2. Immunological disorders_SuperPanel_PanelAppAustralia
  3. SLC7A7
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Immunological disorders_SuperPanel_PanelAppAustralia

Gene: SLC7A7

Green List (high evidence)
SLC7A7 (solute carrier family 7 member 7)
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 8 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

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