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STOM

Synonyms
BND7, EPB7, EPB72
External resources
Summary
This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants.

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
15
Likely pathogenic
0
VUS
974
Likely benign
13
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on STOM gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
73.3%
Abnormality of the nervous system
73.3%
Abnormality of the eye
46.7%
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
26.7%
Abnormality of limbs
20%
Abnormality of the endocrine system
20%
Abnormality of the genitourinary system
20%
Abnormality of the respiratory system
20%
Growth abnormality
20%
Abnormality of the ear
13.3%
Abnormality of the integument
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the immune system
6.7%
Constitutional symptom
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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