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SEC23B

Synonyms
CDA-II, CDAII, CDAN2, CWS7, HEMPAS, hSec23B
External resources
Summary
The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene.

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
18
VUS
12,690
Likely benign
7,458
Benign
496

Patient phenotypes

Proportions of phenotypes among 38 patients carrying pathogenic or likely pathogenic variants on SEC23B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.4%
Abnormality of the musculoskeletal system
36.8%
Abnormality of the eye
26.3%
Abnormality of head or neck
15.8%
Abnormality of limbs
13.2%
Abnormality of the ear
7.9%
Abnormality of the integument
7.9%
Neoplasm
7.9%
Abnormality of the cardiovascular system
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
5.3%
Constitutional symptom
5.3%
Growth abnormality
5.3%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormality of the endocrine system
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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