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Mendeliome

Gene: IKZF3

Green List (high evidence)

IKZF3 (IKAROS family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000161405
EnsemblGeneIds (GRCh37): ENSG00000161405
OMIM: 606221, Gene2Phenotype
IKZF3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional multigenerational family where novel missense variant segregated with disease in 4 individuals.
Created: 13 Jul 2022, 8:32 a.m. | Last Modified: 13 Jul 2022, 8:32 a.m.
Panel Version: 1.106
Single family reported where heterozygous missense variant in this gene segregated with immunodeficiency in a mother and two children. Findings included low levels of B cells and impaired early B-cell development, variable T-cell abnormalities, hypogammaglobulinaemia, increased susceptibility to infection with Epstein-Barr virus (EBV). One individual developed lymphoma in adulthood. Mouse model recapitulated phenotype.
Sources: Expert Review
Created: 28 Jul 2021, 1:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 84, MIM# 619437

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency 84, MIM# 619437
OMIM
606221
Clinvar variants
Variants in IKZF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf3 has been classified as Green List (High Evidence).

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf3 has been classified as Amber List (Moderate Evidence).

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf3 has been classified as Amber List (Moderate Evidence).

28 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IKZF3 was added gene: IKZF3 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF3 were set to 34155405 Phenotypes for gene: IKZF3 were set to Immunodeficiency 84, MIM# 619437 Review for gene: IKZF3 was set to AMBER