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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

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
40
Likely pathogenic
8
VUS
2,294
Likely benign
2,323
Benign
12

Patient phenotypes

Proportions of phenotypes among 48 patients carring pathogenic or likely pathogenic variants on TGM5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.4%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
14.6%
Abnormality of the ear
14.6%
Abnormality of limbs
12.5%
Abnormality of the integument
10.4%
Growth abnormality
10.4%
Abnormality of the genitourinary system
8.3%
Abnormality of the digestive system
4.2%
Abnormality of the immune system
4.2%
Abnormality of the respiratory system
4.2%
Abnormal cellular phenotype
2.1%
Abnormality of blood and blood-forming tissues
2.1%
Neoplasm
2.1%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
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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