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| Disorders of immune dysregulation v0.148 | IKZF1 | Bryony Thompson Marked gene: IKZF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.148 | IKZF1 | Bryony Thompson Gene: ikzf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.148 | IKZF1 | Bryony Thompson Classified gene: IKZF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.148 | IKZF1 | Bryony Thompson Gene: ikzf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.147 | IKZF1 |
Peter McNaughton gene: IKZF1 was added gene: IKZF1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to PMID: 35333544 Phenotypes for gene: IKZF1 were set to Immune dysregulation Mode of pathogenicity for gene: IKZF1 was set to Other Review for gene: IKZF1 was set to GREEN Added comment: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation. Sources: Literature |
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