Home > Gene Browser > TMOD2

TMOD2

Synonyms
N-TMOD, NTMOD
External resources
Summary
This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described.

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
7
Likely pathogenic
0
VUS
6,021
Likely benign
21
Benign
0

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on TMOD2 gene are displayed below. The following symptoms were found in patients with a variant in TMOD2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the immune system
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the nervous system
28.6%
Neoplasm
28.6%
Abnormal cellular phenotype
14.3%
Abnormality of blood and blood forming tissues
14.3%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the eye
14.3%
Abnormality of the integument
14.3%
Growth abnormality
14.3%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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