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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

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
55
Likely pathogenic
7
VUS
9,186
Likely benign
6,321
Benign
117

Patient phenotypes

Proportions of phenotypes among 57 patients carrying pathogenic or likely pathogenic variants on TGM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the integument
36.8%
Abnormality of the nervous system
26.3%
Abnormality of the eye
22.8%
Abnormality of head or neck
21.1%
Abnormality of the musculoskeletal system
21.1%
Abnormality of limbs
17.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the ear
8.8%
Abnormality of the respiratory system
7%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
5.3%
Growth abnormality
5.3%
Abnormality of the endocrine system
3.5%
Abnormality of the genitourinary system
3.5%
Abnormality of blood and blood-forming tissues
1.8%
Abnormality of prenatal development or birth
1.8%
Abnormality of the breast
1.8%
Constitutional symptom
1.8%
Neoplasm
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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