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NBPF15

Synonyms
AB14, AG3, NBPF16
External resources
Summary
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes.

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
32
Likely pathogenic
1
VUS
11,437
Likely benign
3,917
Benign
0

Patient Phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on NBPF15 gene are displayed below. The following symptoms were found in patients with a variant in NBPF15. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
26.9%
Abnormality of the cardiovascular system
23.1%
Abnormality of the eye
23.1%
Abnormality of head or neck
7.7%
Abnormality of limbs
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the ear
3.8%
Abnormality of the genitourinary system
3.8%
Growth abnormality
3.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
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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