Early onset or syndromic epilepsy
Gene: ASNS
Seizures appear to be associated with disease in a number of cases:
Ruzzo et al 2013 - 9 patients from 4 unrelated families with a similar phenotype - patients in 3 families developed early-onset seizures. 3 diff hom/compound het missense mutations in the ASNS gene.
Sun et al 2017 - 2 sisters from a consanguineous Indian family. Neither had epilepsy but one had an hyperekplexia and other had an abnormal EEG - one died at 6 months and the other at 11 days. Identified a hom missense variant.
Abhyankar et al 2018 - infant - presented at birth with seizures and other features. Compound het ASNS gene variants.
Gupta et al 2017 - onset of generalised tonic-clonic and multifocal seizures at 3 months of age along with other features. Hom missense variant identified in the ASNS gene.
Sacharow et al 2018 - brother and sister in whom seizures began in both sibs around 6 months of age. Other features noted. Hom missense variant identified in the ASNS gene.Created: 27 Apr 2022, 8:56 a.m. | Last Modified: 27 Apr 2022, 8:56 a.m.
Panel Version: 2.518
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine Synthetase deficiency
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 25 Jan 2021, 4:56 p.m. | Last Modified: 25 Jan 2021, 4:56 p.m.
Panel Version: 2.270
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in at least five unrelated cases with seizures.Created: 25 Jan 2021, 4:56 p.m. | Last Modified: 25 Jan 2021, 4:56 p.m.
Panel Version: 2.269
Encephalopathy, including seizures is a feature of this metabolic condition.
Sources: Expert listCreated: 7 Jan 2020, 7:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency, MIM# 615574
Publications for gene: ASNS were set to 24139043; 25227173; 29375865; 24139043; 27469131
Tag for-review was removed from gene: ASNS.
Source Expert Review Green was added to ASNS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: asns has been classified as Amber List (Moderate Evidence).
Publications for gene: ASNS were set to
Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, MIM# 615574 to Asparagine synthetase deficiency OMIM:615574
Tag for-review tag was added to gene: ASNS.
gene: ASNS was added gene: ASNS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, MIM# 615574 Review for gene: ASNS was set to GREEN