Adult onset neurodegenerative disorder
Gene: ARG1
rginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle - childhood onset, redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininaemia, 207800; Progressive spastic tetraplegia
Young onset disorder.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininaemia, 207800; Progressive spastic tetraplegia
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.Created: 7 Jan 2019, 4:08 p.m.
Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.Created: 20 Dec 2018, 3:13 p.m.
Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel by Chris Buxton.Created: 20 Dec 2018, 10:28 a.m.
Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininemia, OMIM:207800
Source Expert Review Red was added to ARG1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to ARG1.
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. Rating Changed from Green List (high evidence) to Green List (high evidence)
Rebecca Foulger: Gene awaiting curator evaluati
Phenotypes for gene: ARG1 were changed from Argininaemia 207800; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininaemia 207800; Progressive spastic tetraplegia
Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Publications for gene: ARG1 were set to 26310552; 23859858
Gene: arg1 has been classified as Green List (High Evidence).
Gene: arg1 has been classified as Red List (Low Evidence).
Gene: arg1 has been removed from the panel.
gene: ARG1 was added gene: ARG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 26310552; 23859858 Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia