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SHROOM3

Synonyms
APXL3, MSTP013, SHRM, ShrmL
External resources
Summary
This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation.

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
13,525
Likely benign
2,574
Benign
397

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on SHROOM3 gene are displayed below. The following symptoms were found in patients with a variant in SHROOM3. However, patients may have been diagnosed with a different variant.

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