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MEI1

Synonyms
HYDM3, SPATA38
External resources

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
32
Likely pathogenic
0
VUS
3,620
Likely benign
8,129
Benign
24

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on MEI1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.9%
Abnormality of head or neck
26.3%
Abnormality of the musculoskeletal system
26.3%
Growth abnormality
21.1%
Abnormality of blood and blood-forming tissues
15.8%
Abnormality of the cardiovascular system
15.8%
Abnormality of the eye
15.8%
Abnormality of the immune system
15.8%
Abnormal cellular phenotype
5.3%
Abnormality of limbs
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the integument
5.3%
Abnormality of the respiratory system
5.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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