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Primary immunodeficiency

Gene: IKZF3

Red List (low evidence)

IKZF3 (IKAROS family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000161405
EnsemblGeneIds (GRCh37): ENSG00000161405
OMIM: 606221, Gene2Phenotype
IKZF3 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer (University of Florence). Rating Red as only a single family with B cell deficiency has been reported at this time. Includes supportive mouse model showing B cell developmental defects and T cell abnormalities (PMID:34155405).
Created: 29 Jun 2021, 9:22 a.m. | Last Modified: 29 Jun 2021, 9:22 a.m.
Panel Version: 2.435

Boaz Palterer (University of Florence)

Red List (low evidence)

Motoi Yamashita et al. ( https://www.nature.com/articles/s41590-021-00951-z ) identified 3 patients from a kindred harboring the missense G159R variant in AIOLOS, encoded by the IKZF3 gene. They demonstrated that the variant acts as a dominant-negative mutation through heterodimeric interference by disrupting IKAROS (IKZF1) function.
Sources: Literature
Created: 22 Jun 2021, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
B cell deficiency; EBV inefctions suspectibility; hypogammaglobulinemia

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • B cell deficiency
  • EBV inefctions suspectibility
  • hypogammaglobulinemia
OMIM
606221
Clinvar variants
Variants in IKZF3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

29 Jun 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: IKZF3 were set to

29 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ikzf3 has been classified as Red List (Low Evidence).

22 Jun 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: IKZF3 was added gene: IKZF3 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IKZF3 were set to B cell deficiency; EBV inefctions suspectibility; hypogammaglobulinemia Penetrance for gene: IKZF3 were set to unknown Review for gene: IKZF3 was set to RED