IKZF5 Chromosome 10
IKAROS family zinc finger 5
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What This Gene Does
Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
10q26.13
Ensembl
ENSG00000095574
Associated Conditions (1)
Thrombocytopenia 7
Key Variants
RS2493512800
Likely pathogenic
Thrombocytopenia 7, Thrombocytopenia 7
Health Risk
RS2493522763
Likely pathogenic
Thrombocytopenia 7, Thrombocytopenia 7
Health Risk
RS2133379669
Pathogenic
Thrombocytopenia 7, Thrombocytopenia 7
Health Risk
RS2133379859
Pathogenic
Thrombocytopenia 7, Thrombocytopenia 7
Health Risk
RS1849295075
Pathogenic/Likely pathogenic
Thrombocytopenia 7, Thrombocytopenia 7
Health Risk
RS2133379889
Pathogenic/Likely pathogenic
Thrombocytopenia 7, Thrombocytopenia 7
Health Risk
RS2133384781
Pathogenic/Likely pathogenic
Thrombocytopenia 7, Thrombocytopenia 7
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2493512800 | Health Risk | Likely pathogenic | Thrombocytopenia 7, Thrombocytopenia 7 |
| RS2493522763 | Health Risk | Likely pathogenic | Thrombocytopenia 7, Thrombocytopenia 7 |
| RS2133379669 | Health Risk | Pathogenic | Thrombocytopenia 7, Thrombocytopenia 7 |
| RS2133379859 | Health Risk | Pathogenic | Thrombocytopenia 7, Thrombocytopenia 7 |
| RS1849295075 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia 7, Thrombocytopenia 7 |
| RS2133379889 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia 7, Thrombocytopenia 7 |
| RS2133384781 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia 7, Thrombocytopenia 7 |