Childhood onset hereditary spastic paraplegia
Gene: ARG1EnsemblGeneIds (GRCh38): ENSG00000118520
EnsemblGeneIds (GRCh37): ENSG00000118520
OMIM: 608313, Gene2Phenotype
ARG1 is in 13 panels
5 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Spastic tetraplegia is a feature of Argininemia.Created: 3 May 2019, 4:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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)
Sufficient publications. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininaemia, 207800; Progressive spastic tetraplegia
Arianna Tucci (Genomics England Curator)
spasticity typically develops in childoodCreated: 25 Feb 2019, 11:23 a.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.Created: 7 Jan 2019, 4:10 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Literature
- Phenotypes
-
- Argininemia, OMIM:207800
- OMIM
- 608313
- Clinvar variants
- Variants in ARG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- DDG2P
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Neonatal cholestasis
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ARG1 were changed from Progressive spastic tetraplegia; Argininaemia, 207800 to Argininemia, OMIM:207800
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ARG1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ARG1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to ARG1.
Set Phenotypes, Set publications, Status Update
Louise Daugherty (Genomics England Curator)Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1 Publications for gene ARG1 were changed from 26310552; 23859858; 2365823; 1463019 to 2365823; 23859858; 1463019; 26310552 Rating Changed from Green List (high evidence) to Green List (high evidence)
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: arg1 has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: ARG1 were set to 23859858; 26310552
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: ARG1 was added gene: ARG1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 23859858; 26310552 Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia