Home > Gene Browser > MEI1

MEI1

Synonyms
HYDM3, SPATA38
External resources
Summary
-

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
42
Likely pathogenic
0
VUS
6,318
Likely benign
4,754
Benign
59

Patient phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on MEI1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.2%
Abnormality of the cardiovascular system
27.6%
Abnormality of head or neck
20.7%
Abnormality of the musculoskeletal system
20.7%
Growth abnormality
20.7%
Abnormality of the eye
13.8%
Abnormality of the immune system
13.8%
Abnormality of blood and blood-forming tissues
10.3%
Abnormality of the digestive system
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of the respiratory system
10.3%
Abnormality of the integument
6.9%
Abnormal cellular phenotype
3.4%
Abnormality of limbs
3.4%
Abnormality of prenatal development or birth
3.4%
Abnormality of metabolism homeostasis
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%

Have a question or need assistance? Ask here.

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