COVID-19 research
Gene: SLC7A7
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
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
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)
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