Home > Gene Browser > RECQL5

RECQL5

Synonyms
RECQ5
External resources
Summary
The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene.

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
23
Likely pathogenic
110
VUS
7,132
Likely benign
1,176
Benign
0

Patient Phenotypes

Proportions of phenotypes among 132 patients carrying pathogenic or likely pathogenic variants on RECQL5 gene are displayed below. The following symptoms were found in patients with a variant in RECQL5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
40.9%
Abnormality of the eye
25%
Abnormality of the nervous system
22.7%
Abnormality of the musculoskeletal system
10.6%
Abnormality of the cardiovascular system
9.8%
Abnormality of head or neck
9.1%
Growth abnormality
7.6%
Abnormality of the ear
6.1%
Abnormality of limbs
5.3%
Abnormality of blood and blood forming tissues
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the endocrine system
2.3%
Abnormality of the integument
2.3%
Abnormality of metabolism homeostasis
1.5%
Abnormality of prenatal development or birth
0.8%
Abnormality of the immune system
0.8%
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%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.