IKZF1

IKAROS family zinc finger 1

13 disorders 7 untyped 2 somatic driver 1 cooperating 1 causative 1 no genetic record 1 susceptibility 7p12.2 gene with protein product

HGNC:13176 Monarch NCBI Gene 10320 ENSG00000185811 UniProt Q13422 OMIM 603023

Previous symbols: ZNFN1A1. Aliases: hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92.

Normal function · from ai-gene-review (Q13422, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Acute Lymphoblastic Leukemia	cooperating somatic	mechanism: B-Lineage Developmental Program Disruption scoped to subtype: B-ALL
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	somatic driver somatic
Blastic Plasmacytoid Dendritic Cell Neoplasm	somatic driver somatic	mechanism: IKZF1 Structural Inactivation
Common Variable Immunodeficiency	causative	mechanism: Early B Cell Lymphopoiesis Failure; Immune Dysregulation and Autoimmunity subtype: CVID13 scoped to subtype: CVID13
Type I Diabetes	susceptibility germline
Ankylosing Spondylitis	untyped GWAS
Crohn Disease	untyped GWAS
Multiple Sclerosis	untyped GWAS
Psoriasis	untyped GWAS
Rheumatoid Arthritis	untyped GWAS
Systemic Lupus Erythematosus	untyped GWAS
Ulcerative Colitis	untyped GWAS
Stevens-Johnson Syndrome	no genetic record	mechanism: Innate Immune Regulatory Network Dysregulation

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
autoimmune disease MONDO:0007179	AD	Moderate 2022-08-16	no dismech entry
pancytopenia due to IKZF1 mutations MONDO:0014810	AD	Definitive 2022-09-13	Common Variable Immunodeficiency causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.