COVID-19 research
Gene: SLC39A7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
agammaglobulinaemia; B cell deficiency
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
Comment on list classification: New gene added for reviewCreated: 26 Feb 2020, 4:37 p.m. | Last Modified: 26 Feb 2020, 4:37 p.m.
Panel Version: 2.8
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.Created: 22 Jan 2020, 11:37 a.m. | Last Modified: 22 Jan 2020, 11:37 a.m.
Panel Version: 2.0
Publications
Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models.
Sources: LiteratureCreated: 18 Jan 2020, 6:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Agammaglobulinemia; B cell deficiency
Publications
Source Expert Review Green was added to SLC39A7. Added phenotypes Agammaglobulinemia; B cell deficiency; Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies for gene: SLC39A7 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SLC39A7 was added gene: SLC39A7 was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification December 2019 Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 32086639; 32048120; 30718914 Phenotypes for gene: SLC39A7 were set to Agammaglobulinemia; B cell deficiency; Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies