Home > Gene Browser > RTTN

RTTN

Synonyms
MSSP
External resources
Summary
This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development.

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
28
Likely pathogenic
0
VUS
5,748
Likely benign
11,849
Benign
466

Patient Phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on RTTN gene are displayed below. The following symptoms were found in patients with a variant in RTTN. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.6%
Abnormality of the musculoskeletal system
46.4%
Abnormality of head or neck
39.3%
Abnormality of the ear
25%
Abnormality of the eye
25%
Growth abnormality
21.4%
Abnormality of limbs
10.7%
Abnormality of the cardiovascular system
10.7%
Abnormality of the digestive system
10.7%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of blood and blood forming tissues
3.6%
Abnormality of metabolism homeostasis
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the integument
3.6%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
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.