Common Variable Immunodeficiency
Gene: IKZF1EnsemblGeneIds (GRCh38): ENSG00000185811
EnsemblGeneIds (GRCh37): ENSG00000185811
OMIM: 603023, Gene2Phenotype
IKZF1 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 25 individuals from 9 unrelated families with variants in IKZF1 displaying Immunodeficiency; three mouse models Heterozygous missense, frameshift and deletion variants in IKZF1 gene resulting in loss or alteration of a zinc finger DNA contact site cause LoF. Typically presents with recurrent bacterial respiratory infections, hypogammaglobulinaemia and low Ig levels; variable age of onset.Created: 9 Aug 2021, 1:22 a.m. | Last Modified: 9 Aug 2021, 1:22 a.m.
Panel Version: 0.115
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset
Publications
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency, common variable, 13 MIM# 616873
- recurrent bacterial respiratory infections
- Thrombocytopaenia
- immunodeficiency
- Hypogammaglobulinaemia
- decrease B-cells
- decrease B-cell differentiation
- decrease memory B/T cells
- Low Ig
- pneumocystis early CID onset
- OMIM
- 603023
- Clinvar variants
- Variants in IKZF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ikzf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IKZF1 were changed from Immunodeficiency, common variable, 13 MIM#616873 to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IKZF1 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: IKZF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: IKZF1 were changed from to Immunodeficiency, common variable, 13 MIM#616873
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ikzf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IKZF1 was added gene: IKZF1 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IKZF1 was set to Unknown