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TMEM237

Synonyms
ALS2CR4, JBTS14
External resources
Summary
The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene.

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
0
VUS
4,809
Likely benign
4,427
Benign
9

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on TMEM237 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
54.5%
Abnormality of head or neck
45.5%
Abnormality of the musculoskeletal system
36.4%
Abnormality of the immune system
27.3%
Abnormal cellular phenotype
18.2%
Abnormality of blood and blood-forming tissues
18.2%
Abnormality of the ear
18.2%
Abnormality of the eye
18.2%
Abnormality of limbs
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
9.1%
Abnormality of the respiratory system
9.1%
Growth abnormality
9.1%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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