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TGM5

Synonyms
PSS2, TGASE5, TGASEX, TGM6, TGMX, TGX
External resources
Summary
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome.

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
56
Likely pathogenic
10
VUS
2,313
Likely benign
3,402
Benign
32

Patient phenotypes

Proportions of phenotypes among 66 patients carrying pathogenic or likely pathogenic variants on TGM5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of the cardiovascular system
25.8%
Abnormality of the musculoskeletal system
22.7%
Abnormality of the eye
16.7%
Abnormality of head or neck
13.6%
Abnormality of the ear
13.6%
Abnormality of the genitourinary system
13.6%
Growth abnormality
12.1%
Abnormality of limbs
10.6%
Abnormality of the integument
9.1%
Abnormality of the digestive system
6.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the immune system
3%
Abnormality of the respiratory system
3%
Neoplasm
3%
Abnormal cellular phenotype
1.5%
Abnormality of prenatal development or birth
1.5%
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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