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TMEM231

Synonyms
ALYE870, JBTS20, MKS11, PRO1886
External resources
Summary
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants 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
15
Likely pathogenic
0
VUS
1,315
Likely benign
780
Benign
33

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on TMEM231 gene are displayed below.

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

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