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  3. IKZF1
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Predominantly Antibody Deficiency

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 2:08 a.m. | Last Modified: 21 Jul 2020, 2:08 a.m.
Panel Version: 0.44
Created: 21 Jul 2020, 2:08 a.m.
Last Modified: 21 Jul 2020, 2:08 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.44

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least five unrelated families reported.
Sources: Expert list
Created: 5 Apr 2020, 1:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 13, MIM# 616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity

Publications

Created: 5 Apr 2020, 1:34 a.m.

Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 13, MIM# 616873
  • Low IgG, IgA, IgM, low or normal B cells
  • B cells and Ig levels reduce with age
  • Decreased pro-B cells
  • Recurrent sinopulmonary infections
  • Increased risk of ALL, autoimmunity
OMIM
603023
Clinvar variants
Variants in IKZF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IKZF1 was added gene: IKZF1 was added to Predominantly Antibody Deficiency. Sources: 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 Immunodeficiency, common variable, 13, MIM# 616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity Review for gene: IKZF1 was set to GREEN