Genes in panel

Neurodegenerative disorders - adult onset

Gene: ARG1

Red List (low evidence)

ARG1 (arginase 1)
EnsemblGeneIds (GRCh38): ENSG00000118520
EnsemblGeneIds (GRCh37): ENSG00000118520
OMIM: 608313, Gene2Phenotype
ARG1 is in 13 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

rginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle - childhood onset, red
Created: 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

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

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

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 Red
Created: 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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

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, 4:08 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert list
Phenotypes
  • Argininaemia, 207800
  • Progressive spastic tetraplegia
OMIM
608313
Clinvar variants
Variants in ARG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to ARG1. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ARG1.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ARG1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARG1.

23 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ARG1. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

7 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ARG1 were changed from Argininaemia 207800; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia

7 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininaemia 207800; Progressive spastic tetraplegia

7 Jan 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia

7 Jan 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ARG1 were set to 26310552; 23859858

7 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: arg1 has been classified as Green List (High Evidence).

20 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: arg1 has been classified as Red List (Low Evidence).

18 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: arg1 has been removed from the panel.

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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