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ZNF444

Synonyms
EZF-2, EZF2, ZSCAN17
External resources
Summary
This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene.

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
6
Likely pathogenic
0
VUS
4,615
Likely benign
301
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on ZNF444 gene are displayed below. The following symptoms were found in patients with a variant in ZNF444. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the cardiovascular system
33.3%
Abnormality of the ear
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
16.7%
Abnormality of metabolism homeostasis
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the endocrine system
16.7%
Abnormality of the musculoskeletal system
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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