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SRRM2

Synonyms
300-KD, CWF21, Cwc21, HSPC075, SRL300, SRm300
External resources
Summary
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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
21
Likely pathogenic
0
VUS
6,063
Likely benign
6,473
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on SRRM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
27.8%
Growth abnormality
27.8%
Abnormality of the cardiovascular system
22.2%
Abnormality of limbs
16.7%
Abnormality of the ear
16.7%
Abnormality of the integument
16.7%
Abnormality of the digestive system
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the respiratory system
11.1%
Abnormality of prenatal development or birth
5.6%
Abnormality of the genitourinary system
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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