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HEYL

Synonyms
HESR3, HEY3, HRT3, bHLHb33
External resources
Summary
This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.

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
19
Likely pathogenic
0
VUS
1,634
Likely benign
174
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on HEYL gene are displayed below. The following symptoms were found in patients with a variant in HEYL. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.6%
Abnormality of the eye
21.1%
Abnormality of metabolism homeostasis
15.8%
Abnormality of the ear
15.8%
Abnormality of the genitourinary system
10.5%
Abnormality of the musculoskeletal system
10.5%
Abnormality of blood and blood forming tissues
5.3%
Abnormality of head or neck
5.3%
Abnormality of limbs
5.3%
Abnormality of the cardiovascular system
5.3%
Abnormality of the integument
5.3%
Growth abnormality
5.3%
Abnormal cellular phenotype
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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