Childhood onset hereditary spastic paraplegia
Gene: NT5C2EnsemblGeneIds (GRCh38): ENSG00000076685
EnsemblGeneIds (GRCh37): ENSG00000076685
OMIM: 600417, Gene2Phenotype
NT5C2 is in 6 panels
4 reviews
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)
3 unrelated consanguineous families - segregating spastic paraplegia-45 In sheffield HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162, AR
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. Plus literature confirms a childhood onset of HSP: In PMID:28884889, 3 family members developed HSP symptoms at under 1 year. In PMID:28327087, two brothers from a Consanguineous Qatari family age 9 and 3 years with complex HSP had an early-onset phenotype. PMID:29123918 describe an infantile-onset form of recessive HSP.Created: 12 Mar 2019, 11:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 45, autosomal recessive, 613162
- OMIM
- 600417
- Clinvar variants
- Variants in NT5C2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: NT5C2 were set to 19415352; 24482476; 2832708; 28884889; 29123918; 32153630
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: NT5C2 were set to 28327087; 28884889; 24482476; 29123918
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to NT5C2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NT5C2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to NT5C2.
Set Phenotypes, Set publications, Status Update
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2 Publications for gene NT5C2 were changed from 29123918; 28884889; 24482476; 28327087 to 28327087; 28884889; 24482476; 29123918 Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: nt5c2 has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: NT5C2 was added gene: NT5C2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C2 were set to 29123918; 28884889; 24482476; 28327087 Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162