Aminoacidopathy
Gene: AGAEnsemblGeneIds (GRCh38): ENSG00000038002
EnsemblGeneIds (GRCh37): ENSG00000038002
OMIM: 613228, Gene2Phenotype
AGA is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Canavan disease MONDO:0010079
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/10/2020 - https://search.clinicalgenome.org/CCID:004188
Canavan disease is most prevalent in the AJ population however has been reported in other individuals as well. The most common variants in AJ population are p.Glu285Ala and p.Tyr231Ter (PMID:8252036). The most common variant reported in the non-Jewish population is p.Ala305Glu (PMID:20301412). All variants have been reported as pathogenic on ClinVar with at least 2/4 stars.
Variants have been reported in >10 individuals with elevated N-acetylaspartic acid (NAA) levels and LoF is the mechanism of disease.
Sources: ClinGenCreated: 23 May 2024, 2:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Canavan disease MONDO:0010079
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Canavan disease MONDO:0010079
- OMIM
- 613228
- Clinvar variants
- Variants in AGA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aga has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aga has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: AGA was added gene: AGA was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 8252036, 20301412 Phenotypes for gene: AGA were set to Canavan disease MONDO:0010079