Lysosomal Storage Disorder
Gene: AGAEnsemblGeneIds (GRCh38): ENSG00000038002
EnsemblGeneIds (GRCh37): ENSG00000038002
OMIM: 613228, Gene2Phenotype
AGA is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation.
Multiple families and mouse model.Created: 7 Apr 2021, 7:59 a.m. | Last Modified: 7 Apr 2021, 7:59 a.m.
Panel Version: 0.67
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aspartylglucosaminuria, MIM# 208400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Aspartylglucosaminuria, MIM# 208400
- MONDO:0008830
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AGA were changed from Aspartylglucosaminuria, MIM# 208400 to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aga has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AGA were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AGA was added gene: AGA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGA was set to Unknown