Home > Gene Browser > CTNS

CTNS

Synonyms
CTNS-LSB, PQLC4, SLC66A4
External resources
Summary
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.

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
13
Likely pathogenic
5
VUS
9,827
Likely benign
2,055
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on CTNS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
27.8%
Abnormality of the musculoskeletal system
27.8%
Abnormality of limbs
22.2%
Abnormality of the cardiovascular system
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of the nervous system
16.7%
Growth abnormality
16.7%
Abnormality of head or neck
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the ear
5.6%
Abnormality of the endocrine system
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes