Regression
Gene: ASLEnsemblGeneIds (GRCh38): ENSG00000126522
EnsemblGeneIds (GRCh37): ENSG00000126522
OMIM: 608310, Gene2Phenotype
ASL is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Intellectual disability is a feature of this metabolic condition.
Sources: Expert listCreated: 23 Nov 2019, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininosuccinic aciduria, MIM#207900
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 608310
- Clinvar variants
- Variants in ASL
- Penetrance
- None
- Panels with this gene
-
- Cerebral Palsy
- Regression
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Hair disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ASL.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ASL was added gene: ASL was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASL was set to Unknown