Home > Gene Browser > TMCO1

TMCO1

Synonyms
HP10122, PCIA3, PNAS-136, TMCC4
External resources
Summary
This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described.

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
9
Likely pathogenic
2
VUS
3,227
Likely benign
12,660
Benign
150

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on TMCO1 gene are displayed below.

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