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PLEKHG5

Synonyms
CMTRIC, DSMA4, GEF720, Syx, Tech
External resources
Summary
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for 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
25
Likely pathogenic
7
VUS
36,305
Likely benign
7,173
Benign
0

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on PLEKHG5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.8%
Abnormality of the musculoskeletal system
41.7%
Abnormality of head or neck
25%
Abnormality of the eye
25%
Abnormality of the cardiovascular system
20.8%
Abnormality of the ear
16.7%
Growth abnormality
16.7%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of limbs
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the integument
8.3%
Abnormality of prenatal development or birth
4.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune 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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