1. Panels
  2. DDG2P
  3. IKZF2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: IKZF2

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

2 reviews

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotypes updated 20 Mar 2026.
Created: 20 Mar 2026, 11:48 a.m. | Last Modified: 20 Mar 2026, 11:48 a.m.
Panel Version: 6.442
Created: 20 Mar 2026, 11:48 a.m.
Last Modified: 20 Mar 2026, 11:48 a.m.
Panel version: 6.442

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease IKZF2-related ICHAD syndrome is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37316189).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
IKZF2-related ICHAD syndrome

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233
  • Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
Tags
de novo
OMIM
606234
Clinvar variants
Variants in IKZF2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 1

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

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

13 Feb 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: IKZF2.

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IKZF2 was added gene: IKZF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IKZF2 were set to 37316189 Phenotypes for gene: IKZF2 were set to IKZF2-related ICHAD syndrome Mode of pathogenicity for gene: IKZF2 was set to Other