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MFSD2A

Synonyms
MCPH15, MFSD2, NEDMISBA, NLS1, SLC59A1
External resources
Summary
The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome.

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
12
Likely pathogenic
0
VUS
1,072
Likely benign
1,801
Benign
23

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on MFSD2A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.6%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of head or neck
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the eye
11.1%
Abnormality of the immune system
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
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 digestive system
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
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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