Early onset or syndromic epilepsy
Gene: ARG1
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
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
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures reported in at least three unrelated cases carrying different variants.
Sources: LiteratureCreated: 26 Sep 2018, 1:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininemia 207800
Publications
Phenotypes for gene: ARG1 were changed from Argininemia 207800 to Argininemia, OMIM:207800
Source Wessex and West Midlands GLH was added to ARG1.
Source NHS GMS was added to ARG1.
Sarah Leigh: Associated with relevant pheno
Gene: arg1 has been classified as Green List (High Evidence).
Gene: arg1 has been classified as Green List (High Evidence).
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