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MDGA1

Synonyms
GPIM, MAMDC3
External resources
Summary
This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia.

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
133
Likely pathogenic
0
VUS
4,466
Likely benign
2,552
Benign
0

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on MDGA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
25.6%
Abnormality of head or neck
23.1%
Abnormality of the musculoskeletal system
23.1%
Abnormality of the cardiovascular system
20.5%
Abnormality of the nervous system
15.4%
Growth abnormality
15.4%
Abnormality of limbs
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the immune system
7.7%
Abnormality of prenatal development or birth
5.1%
Abnormality of the digestive system
5.1%
Abnormality of the endocrine system
2.6%
Abnormality of the eye
2.6%
Abnormality of the integument
2.6%
Abnormality of the respiratory system
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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