Hereditary Neuropathy - complex
Gene: NIPA1EnsemblGeneIds (GRCh38): ENSG00000170113
EnsemblGeneIds (GRCh37): ENSG00000170113
OMIM: 608145, Gene2Phenotype
NIPA1 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Neuropathy is not a prominent feature of the complicated HSP sometimes reported associated with this gene. However, it has been reported in 6/110 (5.5%) of NIPA1-associated complicated HSP cases.Created: 14 Aug 2023, 5:07 a.m. | Last Modified: 14 Aug 2023, 5:07 a.m.
Panel Version: 0.271
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 6, autosomal dominant MIM#600363
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia 6
- OMIM
- 608145
- Clinvar variants
- Variants in NIPA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nipa1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nipa1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NIPA1 was added gene: NIPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPA1 were set to 21419568 Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6