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CRLF3

Synonyms
CREME-9, CREME9, CRLM9, CYTOR4, FRWS, p48.2
External resources
Summary
This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5.

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
40
Likely pathogenic
0
VUS
1,065
Likely benign
33
Benign
0

Patient phenotypes

Proportions of phenotypes among 39 patients carring pathogenic or likely pathogenic variants on CRLF3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.9%
Abnormality of head or neck
20.5%
Abnormality of the ear
20.5%
Growth abnormality
20.5%
Abnormality of the musculoskeletal system
17.9%
Abnormality of the eye
15.4%
Abnormality of the cardiovascular system
12.8%
Abnormality of the genitourinary system
12.8%
Abnormality of the digestive system
7.7%
Abnormality of the respiratory system
5.1%
Neoplasm
5.1%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of limbs
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of the immune system
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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