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AGMO

Synonyms
TMEM195
External resources
Summary
The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms.

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
26
Likely pathogenic
0
VUS
3,212
Likely benign
3,576
Benign
41

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on AGMO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.6%
Abnormality of the eye
19.2%
Abnormality of the cardiovascular system
15.4%
Abnormality of head or neck
11.5%
Abnormality of the digestive system
11.5%
Abnormality of the endocrine system
11.5%
Abnormality of the genitourinary system
11.5%
Abnormality of the ear
7.7%
Abnormality of the musculoskeletal system
7.7%
Growth abnormality
7.7%
Abnormality of limbs
3.8%
Abnormality of prenatal development or birth
3.8%
Abnormality of the integument
3.8%
Constitutional symptom
3.8%
Neoplasm
3.8%
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 immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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