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AFG3L2

Synonyms
OPA12, SCA28, SPAX5
External resources
Summary
This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders.

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
10
Likely pathogenic
0
VUS
10,821
Likely benign
2,604
Benign
676

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on AFG3L2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Abnormality of blood and blood-forming tissues
22.2%
Abnormality of the digestive system
22.2%
Abnormality of the integument
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of the nervous system
22.2%
Abnormality of head or neck
11.1%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Constitutional symptom
11.1%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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