IKZF5
Chr 10ADIKAROS family zinc finger 5
Also known as: PEGASUS, THC7, ZNFN1A5
Primary Disease Associations & Inheritance
Thrombocytopenia, autosomal dominant, 7MIM #619130
AD
UniProtThrombocytopenia 7
Clinical highlights
Gene-disease validity (ClinGen)
thrombocytopenia 7 · ADModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?
0.46LOEUF
pLI 0.780
Z-score 2.94
OE 0.15 (0.06–0.46)
More LoF-intolerant than ~75% of genes
Missense Constraint?
1.89Z-score
OE missense 0.65 (0.57–0.75)
155 obs / 236.8 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.15 (0.06–0.46)
0≤0.351.4
Missense OE?0.65 (0.57–0.75)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 2 / 13.8Missense obs/exp: 155 / 236.8Syn Z: 0.87
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IKZF5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools