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TICAM2

Synonyms
MyD88-4, TICAM-2, TIRAP3, TIRP, TRAM
External resources
Summary
TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).

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
21
Likely pathogenic
0
VUS
582
Likely benign
102
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on TICAM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.1%
Abnormality of the eye
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
19%
Abnormality of the ear
14.3%
Growth abnormality
14.3%
Abnormality of limbs
9.5%
Abnormality of the cardiovascular system
9.5%
Abnormality of the digestive system
9.5%
Abnormality of the integument
9.5%
Abnormality of prenatal development or birth
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the immune system
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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%
Neoplasm
0%

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