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GLRA1

Synonyms
HKPX1, STHE
External resources
Summary
The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found.

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
11
Likely pathogenic
4
VUS
2,253
Likely benign
504
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on GLRA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.3%
Abnormality of the musculoskeletal system
46.7%
Abnormality of head or neck
40%
Abnormality of limbs
33.3%
Abnormality of the integument
33.3%
Growth abnormality
26.7%
Abnormality of the ear
20%
Abnormal cellular phenotype
13.3%
Abnormality of the digestive system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the breast
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the eye
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the respiratory system
6.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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