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COVID-19 research

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 9 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lysinuric protein intolerance; failure to thrive; hyperammonaemia; encephalopathy; developmental disability; nephropathy; lupus nephritis; haemophagocytic lymphophistiocytosis; pancreatitis; pulmonary alveolar proteinosis

Publications

Created: 5 May 2020, 10:41 a.m.
Last Modified: 5 May 2020, 10:41 a.m.
Panel version: 0.180

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Lysinuric protein intolerance, 222700
  • Severe bacterial infections
  • Lysinuric protein intolerance SLC7A7 deficiency
  • Predominantly Antibody Deficiencies
OMIM
603593
Clinvar variants
Variants in SLC7A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to SLC7A7. Added phenotypes Lysinuric protein intolerance, 222700; Severe bacterial infections; Lysinuric protein intolerance SLC7A7 deficiency; Predominantly Antibody Deficiencies for gene: SLC7A7 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC7A7 was added gene: SLC7A7 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 28057010; 32086639; 32048120 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700; Severe bacterial infections; Lysinuric protein intolerance SLC7A7 deficiency; Predominantly Antibody Deficiencies