Childhood onset hereditary spastic paraplegia
Gene: NIPA1EnsemblGeneIds (GRCh38): ENSG00000170113
EnsemblGeneIds (GRCh37): ENSG00000170113
OMIM: 608145, Gene2Phenotype
NIPA1 is in 7 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Adult and childhood onsetCreated: 9 May 2019, 6:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
mutations published in North American, chinses, british families.In current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spasticparaplegia6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363
Arianna Tucci (Genomics England Curator)
Onset SPG6 is usually in the thirst/fourth decade, but has been described in the first and second decade too (15711826)Created: 14 Jan 2019, 5:16 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 6, autosomal dominant, 600363
- OMIM
- 608145
- Clinvar variants
- Variants in NIPA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: NIPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6,autosomal dominant, 600363 to Spastic paraplegia 6, autosomal dominant, 600363
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NIPA1 were set to 15711826; 14508710
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to NIPA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NIPA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to NIPA1.
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 6,autosomal dominant, 600363 for gene: NIPA1 Publications for gene NIPA1 were changed from 14508710; 15711826 to 15711826; 14508710
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset SPG6 is usually in the t
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: NIPA1 were changed from Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant to Spastic paraplegia 6,autosomal dominant, 600363
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NIPA1 were set to Rainier et al. (2003)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: NIPA1 was added gene: NIPA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPA1 were set to Rainier et al. (2003) Phenotypes for gene: NIPA1 were set to Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant