Home > Gene Browser > AGMO

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

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
45
Likely pathogenic
0
VUS
5,041
Likely benign
5,372
Benign
90

Patient phenotypes

Proportions of phenotypes among 45 patients carrying pathogenic or likely pathogenic variants on AGMO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
28.9%
Abnormality of the eye
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the digestive system
11.1%
Abnormality of head or neck
8.9%
Abnormality of the ear
8.9%
Abnormality of the endocrine system
8.9%
Abnormality of the musculoskeletal system
8.9%
Growth abnormality
6.7%
Abnormality of prenatal development or birth
4.4%
Abnormality of limbs
2.2%
Abnormality of the integument
2.2%
Constitutional symptom
2.2%
Neoplasm
2.2%
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%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes