Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: AGA

Green List (high evidence)

AGA (aspartylglucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000038002
EnsemblGeneIds (GRCh37): ENSG00000038002
OMIM: 613228, Gene2Phenotype
AGA is in 13 panels

1 review

John Coleman (Murdoch Children's Research Institute)

Green List (high evidence)

ASPARTYLGLUCOSAMINURIA (amino acid disorder) a severe lysosomal recessive disorder presenting with CNS, skeletal and connective tissue manifestations. Seizures or epilpesy of various types recorded across the literature. A Finnish cohort reported 1 child and 22 adults with epilepsy. Likely a founder finish mutation common with some cases in Norway and Sweden reported. Case reports of startle epilepsy and Sleep-related hypermotor seizures in aspartylglucosaminuria are also present. Japanese family with 2 siblings with seizures reported outside of common Finnish variant.
Sources: Literature
Created: 4 Dec 2023, 2 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seizures; Epilepsy

Publications

History Filter Activity

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2023, Gel status: 0

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

John Coleman (Murdoch Children's Research Institute)

gene: AGA was added gene: AGA was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to (PMID: 33439067; 8333236; 19175389; 15036433; 8064811; 8946839; 1756604) Review for gene: AGA was set to GREEN