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COVID-19 research

Gene: SLC39A7

Green List (high evidence)

SLC39A7 (solute carrier family 39 member 7)
EnsemblGeneIds (GRCh38): ENSG00000112473
EnsemblGeneIds (GRCh37): ENSG00000112473
OMIM: 601416, Gene2Phenotype
SLC39A7 is in 3 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
agammaglobulinaemia; B cell deficiency

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
Comment on list classification: New gene added for review
Created: 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

Owen Siggs (Flinders University)

Green List (high evidence)

Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models.
Sources: Literature
Created: 18 Jan 2020, 6:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinemia; B cell deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • B cell deficiency
  • Agammaglobulinemia
  • Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia
  • Predominantly Antibody Deficiencies
OMIM
601416
Clinvar variants
Variants in SLC39A7
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 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)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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