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PHIP

Synonyms
BRWD2, CHUJANS, DCAF14, DIDOD, WDR11, ndrp
External resources
Summary
This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients.

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
19
Likely pathogenic
0
VUS
1,376
Likely benign
2,757
Benign
2,613

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on PHIP gene are displayed below. The following symptoms were found in patients with a variant in PHIP. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of head or neck
31.6%
Abnormality of the ear
31.6%
Abnormality of the musculoskeletal system
26.3%
Abnormality of blood and blood forming tissues
10.5%
Abnormality of the endocrine system
10.5%
Growth abnormality
10.5%
Abnormality of limbs
5.3%
Abnormality of metabolism homeostasis
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the cardiovascular system
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the eye
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
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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