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UNC13D

Synonyms
FHL3, HLH3, HPLH3, Munc13-4
External resources
Summary
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder.

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
49
Likely pathogenic
0
VUS
7,616
Likely benign
7,808
Benign
1,265

Patient phenotypes

Proportions of phenotypes among 49 patients carrying pathogenic or likely pathogenic variants on UNC13D gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.8%
Abnormality of the musculoskeletal system
22.4%
Abnormality of head or neck
18.4%
Abnormality of the cardiovascular system
18.4%
Abnormality of the immune system
18.4%
Abnormality of the eye
16.3%
Abnormality of the ear
14.3%
Abnormality of the digestive system
12.2%
Abnormality of blood and blood-forming tissues
10.2%
Abnormality of the integument
10.2%
Abnormality of limbs
8.2%
Abnormality of the genitourinary system
6.1%
Growth abnormality
4.1%
Abnormality of the endocrine system
2%
Abnormality of the respiratory system
2%
Constitutional symptom
2%
Neoplasm
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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