LP208503-5
NIPA1 gene & REEP1 gene
Active
Description
Mutations found in the REEP1 (SPG31) and NIPA1 genes are associated with autosomal dominant hereditary spastic paraplegias (HSPs). HSPs are clinically and genetically heterogeneous. Approximately 40% of the forms with autosomal dominant inheritance pattern have mutations in the SPAST (SPG4) gene that encodes an AAA ATPase family, called spastin. In cases where no mutation is found in the SPAST gene, and the segregation pattern of the disease in the family is autosomal dominant, mutation analysis in the ATL1 gene (SPG3A) (10% familial cases) is performed. When no mutation is found in the SPAST or ALT1 genes, then mutation analysis may be performed in the REEP1 (SPG31) and NIPA1 genes. Copy number analysis (e.g. MLPA) to look for large deletions or duplications in various genes associated with HSPs may also be performed. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- NIPA1 gene & REEP1 gene
- Part Display Name
- NIPA1 and REEP1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-21
- Construct for LOINC Short Name
- NIPA1+REEP1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NIPA1 基因与 REEP1 基因 Synonyms: 非印记型普拉德-威利/安格尔曼综合征 1; |
| es-ES | Spanish (Spain) | Gen NIPA1 y gen REEP1 |
| it-IT | Italian (Italy) | NIPA1 gene & REEP1 gene |
| nl-NL | Dutch (Netherlands) | NIPA1 gen & REEP1-gen Synonyms: NIPA1 gen & REEP1 gen |
| fr-FR | French (France) | NIPA1 gène et REEP1 gène |
| pl-PL | Polish (Poland) | NIPA1 gen & REEP1 gen Synonyms: Geny NIPA1 i REEP1 |
| el-GR | Greek (Greece) | Γονίδιο NIPA1 & γονίδιο REEP1 Synonyms: Γονίδιο NIPA1 & γονίδιο REEP1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://