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PHF10

Synonyms
BAF45A, XAP135
External resources
Summary
This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28.

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
18
Likely pathogenic
0
VUS
4,921
Likely benign
227
Benign
0

Patient Phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on PHF10 gene are displayed below. The following symptoms were found in patients with a variant in PHF10. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
27.8%
Abnormality of the musculoskeletal system
22.2%
Growth abnormality
22.2%
Abnormality of the genitourinary system
16.7%
Abnormality of the integument
16.7%
Abnormality of blood and blood forming tissues
11.1%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the ear
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the immune system
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the eye
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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