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TGM6

Synonyms
SCA35, TG6, TGM3L, TGY, dJ734P14.3
External resources
Summary
The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
8
Likely pathogenic
0
VUS
15,037
Likely benign
5,600
Benign
141

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on TGM6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37.5%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
12.5%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormality of the nervous system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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