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TGM1

Synonyms
ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
External resources
Summary
The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE).

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
32
Likely pathogenic
1
VUS
8,139
Likely benign
3,591
Benign
93

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on TGM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the integument
37.9%
Abnormality of head or neck
31%
Abnormality of the nervous system
31%
Abnormality of the eye
27.6%
Abnormality of the musculoskeletal system
24.1%
Abnormality of limbs
20.7%
Abnormality of the immune system
10.3%
Abnormality of the digestive system
6.9%
Abnormality of the respiratory system
6.9%
Growth abnormality
6.9%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of prenatal development or birth
3.4%
Abnormality of the cardiovascular system
3.4%
Abnormality of the ear
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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