Childhood onset hereditary spastic paraplegia
Gene: ARG1
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
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.
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
spasticity typically develops in childoodCreated: 25 Feb 2019, 11:23 a.m.
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.
Phenotypes for gene: ARG1 were changed from Progressive spastic tetraplegia; Argininaemia, 207800 to Argininemia, OMIM:207800
Source Yorkshire and North East GLH was added to ARG1.
Source NHS GMS was added to ARG1.
Source London North GLH was added to ARG1.
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)
Rebecca Foulger: Comment on list classification
Gene: arg1 has been classified as Green List (High Evidence).
Publications for gene: ARG1 were set to 23859858; 26310552
Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
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