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DENND4A

Synonyms
IRLB, MYCPBP
External resources
Summary
This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.

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
6
Likely pathogenic
9
VUS
10,777
Likely benign
4,428
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on DENND4A gene are displayed below.

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