1. Panels
  2. Fetal anomalies
  3. IKZF2
Genes in panel
Prev Next

Fetal anomalies

Gene: IKZF2

Amber List (moderate evidence)
IKZF2 (IKAROS family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000030419
EnsemblGeneIds (GRCh37): ENSG00000030419
OMIM: 606234, Gene2Phenotype
IKZF2 is in 3 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotypes updated 20 Mar 2026.
Created: 20 Mar 2026, 11:47 a.m. | Last Modified: 20 Mar 2026, 11:47 a.m.
Panel Version: 6.179
Created: 20 Mar 2026, 11:47 a.m.
Last Modified: 20 Mar 2026, 11:47 a.m.
Panel version: 6.179

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Green in primary immunodeficientyc or monogenic inflammatory bowel disease, red in DDG2P panels. Mohajeri et al. 2023 reported 2 unrelated patients with de novo IKZF2 variants; 1 had 20kb intragenic tandem duplication, the other a missense variant. Both affected children had 'unremarkable pregnancies'. Diagnosed in the neonatal period with respiratory distress and postnatal identification of cleft palate. Other phenotypic features include sensorineural hearing loss, developmental delay and craniofacial features. Limited case reports and not sure phenotype would be detected prenatally.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233
  • Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
OMIM
606234
Clinvar variants
Variants in IKZF2
Penetrance
None
Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: IKZF2 were changed from Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 to Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 for gene: IKZF2

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: IKZF2 was added gene: IKZF2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted