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SHROOM1

Synonyms
APXL2
External resources
Summary
SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006

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
12
Likely pathogenic
0
VUS
2,567
Likely benign
198
Benign
0

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on SHROOM1 gene are displayed below. The following symptoms were found in patients with a variant in SHROOM1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the nervous system
25%
Abnormality of the endocrine system
16.7%
Abnormality of the eye
16.7%
Abnormality of head or neck
8.3%
Abnormality of limbs
8.3%
Abnormality of metabolism homeostasis
8.3%
Abnormality of the ear
8.3%
Abnormality of the integument
8.3%
Growth abnormality
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
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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