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SHROOM4

Synonyms
SHAP, shrm4
External resources
Summary
This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described.

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
7
Likely pathogenic
0
VUS
535
Likely benign
2,076
Benign
1,450

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on SHROOM4 gene are displayed below. The following symptoms were found in patients with a variant in SHROOM4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
85.7%
Abnormality of the nervous system
85.7%
Abnormality of the musculoskeletal system
57.1%
Abnormality of the cardiovascular system
42.9%
Abnormality of the digestive system
42.9%
Abnormality of the eye
42.9%
Growth abnormality
42.9%
Abnormality of metabolism homeostasis
28.6%
Abnormality of the ear
28.6%
Abnormality of the integument
28.6%
Abnormality of limbs
14.3%
Abnormality of prenatal development or birth
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the respiratory system
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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