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RBKS

Synonyms
RBSK, RK
External resources
Summary
This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. 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
41
Likely pathogenic
229
VUS
1,488
Likely benign
8
Benign
0

Patient phenotypes

Proportions of phenotypes among 266 patients carring pathogenic or likely pathogenic variants on RBKS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.2%
Abnormality of the musculoskeletal system
25.6%
Abnormality of the cardiovascular system
21.8%
Abnormality of head or neck
20.7%
Abnormality of the ear
17.3%
Abnormality of the eye
16.9%
Growth abnormality
14.7%
Abnormality of limbs
9.4%
Abnormality of the integument
9%
Abnormality of the immune system
7.1%
Abnormality of the genitourinary system
6.4%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the endocrine system
3%
Abnormality of the respiratory system
2.6%
Neoplasm
2.3%
Abnormality of prenatal development or birth
1.9%
Abnormality of the breast
1.5%
Abnormal cellular phenotype
1.1%
Constitutional symptom
1.1%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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