Early onset or syndromic epilepsy
Gene: ADSL
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
A -49T>C mutation in the 5' untranslated region has been reported as pathogenic (PMID: 12016589). AR Adenylosuccinase deficiency. Refractory seizures are a feature. Mostly missense variants reported in the literature in association with this condition but a few stop, splicing and small del/ins. The R426H is relatively common. Exression studies by Kmoch et al 2000, showed that the level of residual enzyme activity correlated with the severity of the clinical phenotype.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
Adenylosuccinase deficiency, 103050
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to ADSL.
Source NHS GMS was added to ADSL.
Sarah Leigh: Associated with relevant pheno
Victorian Clinical Genetics Services was added to ADSL. Panel: Genetic Epilepsy Syndromes
ADSL was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
ADSL was created by Sarah Leigh