DDG2P
Gene: IKZF2

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

1 review

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

37316189

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

IKZF2-related ICHAD syndrome

Tags

de novo

OMIM

606234

Clinvar variants

Variants in IKZF2

Penetrance

None

Publications

37316189

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

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

DDG2P Gene: IKZF2