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HELLS

Synonyms
ICF4, LSH, Nbla10143, PASG, SMARCA6
External resources
Summary
This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
0
VUS
3,489
Likely benign
2,312
Benign
77

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on HELLS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37.5%
Abnormality of head or neck
25%
Abnormality of the nervous system
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormality of the musculoskeletal system
12.5%
Growth abnormality
12.5%
Abnormality of limbs
6.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
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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