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ZNF224

Synonyms
BMZF-2, BMZF2, KOX22, ZNF233, ZNF255, ZNF27
External resources
Summary
This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein represses transcription of the aldolase A gene, which encodes a key enzyme in glycolysis. The encoded zinc-finger protein may also function as a transcriptional co-activator with Wilms' tumor protein 1 to regulate apoptotic genes in leukemia.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
33
Likely pathogenic
0
VUS
1,443
Likely benign
99
Benign
0

Patient Phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on ZNF224 gene are displayed below. The following symptoms were found in patients with a variant in ZNF224. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
22.6%
Abnormality of the eye
19.4%
Abnormality of the musculoskeletal system
19.4%
Abnormality of the cardiovascular system
16.1%
Abnormality of the ear
12.9%
Abnormality of head or neck
9.7%
Abnormality of metabolism homeostasis
9.7%
Abnormality of the genitourinary system
9.7%
Growth abnormality
9.7%
Abnormality of the digestive system
6.5%
Abnormality of the immune system
6.5%
Abnormality of blood and blood forming tissues
3.2%
Abnormality of limbs
3.2%
Abnormality of the endocrine system
3.2%
Abnormality of the integument
3.2%
Abnormality of the respiratory system
3.2%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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