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Immunological disorders_SuperPanel_PanelAppAustralia

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • thrombocytopaenia
  • Antibody deficiency
  • blistering dermatosis
  • early onset infections
  • failure to thrive
OMIM
601416
Clinvar variants
Variants in SLC39A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: SLC39A7 was added gene: SLC39A7 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 30718914 Phenotypes for gene: SLC39A7 were set to thrombocytopaenia; Antibody deficiency; blistering dermatosis; early onset infections; failure to thrive