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SPG7

Synonyms
CAR, CMAR, PGN, SPG5C
External resources
Summary
This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified.

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
62
Likely pathogenic
4
VUS
7,574
Likely benign
2,958
Benign
1,451

Patient phenotypes

Proportions of phenotypes among 65 patients carrying pathogenic or likely pathogenic variants on SPG7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.4%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the eye
18.5%
Abnormality of head or neck
12.3%
Abnormality of the ear
12.3%
Abnormality of the cardiovascular system
10.8%
Abnormality of the digestive system
7.7%
Growth abnormality
7.7%
Abnormality of the endocrine system
6.2%
Abnormality of the genitourinary system
6.2%
Abnormality of limbs
4.6%
Abnormality of the immune system
4.6%
Abnormality of the integument
4.6%
Abnormality of the respiratory system
4.6%
Neoplasm
4.6%
Abnormality of the breast
3.1%
Abnormality of blood and blood-forming tissues
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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