Deleterious IKZF1 Gene Mutation

MedGen UID:: 1648850
•Concept ID:: C4725778
•: Cell or Molecular Dysfunction

Synonyms:

Deleterious hIk-1 Gene Mutation; Deleterious IK1 Gene Mutation; Deleterious IKAROS Family Zinc Finger 1 Gene Mutation; Deleterious IKAROS Gene Mutation; Deleterious LyF-1 Gene Mutation; Deleterious LYF1 Gene Mutation; Deleterious ZNFN1A1 Gene Mutation

Definition

A change in the nucleotide sequence of the IKZF1 gene that is associated with increased risk of disease. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDeleterious IKZF1 Gene Mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Mutation Abnormality
      - Deleterious Mutation
        Deleterious IKZF1 Gene Mutation

Recent clinical studies

Etiology

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.

Stojkic I, Prince BT, Kuehn HS, Gil Silva AA, Varga EA, Rosenzweig SD, Ramadesikan S, Supinger R, Marhabaie M, Chang P, Mardis ER, Koboldt DC
Clin Immunol 2024 Jul;264:110244. Epub 2024 May 9 doi: 10.1016/j.clim.2024.110244. PMID: 38734037

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Diagnosis

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.

See all (1)

MedGen

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Deleterious IKZF1 Gene Mutation

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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