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PHF11

Synonyms
APY, BCAP, IGEL, IGER, IGHER, NY-REN-34, NYREN34
External resources
Summary
This gene encodes a protein containing a PHD (plant homeodomain) type zinc finger. This gene has been identified in some studies as a candidate gene for asthma. Naturally-occurring readthrough transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) gene to this locus. Alternative splicing results in multiple transcript variants.

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
3,338
Likely benign
559
Benign
0

Patient Phenotypes

Proportions of phenotypes among 33 patients carrying pathogenic or likely pathogenic variants on PHF11 gene are displayed below. The following symptoms were found in patients with a variant in PHF11. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
72.7%
Abnormality of the musculoskeletal system
48.5%
Abnormality of head or neck
39.4%
Growth abnormality
27.3%
Abnormality of the eye
24.2%
Abnormality of the genitourinary system
21.2%
Abnormality of the cardiovascular system
18.2%
Abnormality of the digestive system
18.2%
Abnormality of limbs
15.2%
Abnormality of the ear
15.2%
Abnormality of the integument
15.2%
Abnormality of metabolism homeostasis
12.1%
Abnormality of blood and blood forming tissues
3%
Abnormality of prenatal development or birth
3%
Abnormality of the breast
3%
Abnormality of the endocrine system
3%
Abnormality of the immune system
3%
Abnormality of the respiratory system
3%
Abnormality of the voice
3%
Constitutional symptom
3%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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