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PITPNM2

Synonyms
NIR-3, NIR3, RDGB2, RDGBA2
External resources
Summary
PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).

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
113
Likely pathogenic
0
VUS
10,925
Likely benign
1,190
Benign
0

Patient phenotypes

Proportions of phenotypes among 81 patients carrying pathogenic or likely pathogenic variants on PITPNM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42%
Abnormality of the musculoskeletal system
30.9%
Abnormality of the eye
27.2%
Abnormality of the cardiovascular system
21%
Abnormality of head or neck
19.8%
Abnormality of the ear
19.8%
Growth abnormality
19.8%
Abnormality of limbs
14.8%
Abnormality of the integument
14.8%
Abnormality of the digestive system
12.3%
Abnormality of the genitourinary system
7.4%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the immune system
3.7%
Abnormality of the respiratory system
3.7%
Neoplasm
3.7%
Abnormality of the breast
2.5%
Abnormality of the endocrine system
2.5%
Abnormality of the voice
1.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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