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Genetic epilepsy syndromes

Gene: ARG1

Green List (high evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Argininemia - inborn error of metabolism. Diez Ferdinand et al, 2018 - summarised data on 112 reported cases with argininemia including their own. Majority of patients had later onset of disease and severity ranged from no symptoms to severe mental retardation, seizures and spastic paraplegia. 66 mutations from 112 patients. Missense most common (30), deletions (15), splicing (10), nonsense (7) dup (2) ins (1). 48 found in single families and 3 mutartions seen several times. Missense clustered in exons 1, 4 & 7. Seizures listed as a feature in a number of patients in the tables provided in this paper.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininemia, 207800

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures reported in at least three unrelated cases carrying different variants.
Sources: Literature
Created: 26 Sep 2018, 1:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininemia 207800

Publications

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ARG1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ARG1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Sep 2018, Gel status: 1

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 Genetic Epilepsy Syndromes. Sources: Literature Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 26310552; 1463019 Phenotypes for gene: ARG1 were set to Argininemia 207800 Review for gene: ARG1 was set to GREEN