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PDLIM4

Synonyms
RIL
External resources
Summary
This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis.

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
2
Likely pathogenic
0
VUS
659
Likely benign
16,958
Benign
2,219

Patient phenotypes

Proportions of phenotypes among 2 patients carrying pathogenic or likely pathogenic variants on PDLIM4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
100%
Abnormality of the cardiovascular system
50%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the nervous system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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