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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: IKZF1

Green List (high evidence)
IKZF1 (IKAROS family zinc finger 1)
EnsemblGeneIds (GRCh38): ENSG00000185811
EnsemblGeneIds (GRCh37): ENSG00000185811
OMIM: 603023, Gene2Phenotype
IKZF1 is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Decreased pro-B cells
  • Increased risk of ALL, autoimmunity
  • Immunodeficiency, common variable, 13, MIM#616873
  • Recurrent sinopulmonary infections
  • B cells and Ig levels reduce with age
  • Low IgG, IgA, IgM, low or normal B cells
OMIM
603023
Clinvar variants
Variants in IKZF1
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: IKZF1 was added gene: IKZF1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to 21548011; 26981933 Phenotypes for gene: IKZF1 were set to Decreased pro-B cells; Increased risk of ALL, autoimmunity; Immunodeficiency, common variable, 13, MIM#616873; Recurrent sinopulmonary infections; B cells and Ig levels reduce with age; Low IgG, IgA, IgM, low or normal B cells