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PLPPR1

Synonyms
LPPR1, PRG-3, PRG3
External resources
Summary
This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed.

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
0
Likely pathogenic
0
VUS
1,993
Likely benign
1,479
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PLPPR1 gene.

Phenotype class
Patients in 3billion (%)

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