Cerebral Palsy
Gene: ASL
ASL (argininosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000126522
EnsemblGeneIds (GRCh37): ENSG00000126522
OMIM: 608310, Gene2Phenotype
ASL is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000126522
EnsemblGeneIds (GRCh37): ENSG00000126522
OMIM: 608310, Gene2Phenotype
ASL is in 14 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with biallelic P variants reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: LiteratureCreated: 28 May 2024, 4:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininosuccinic aciduria, MIM#207900
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Argininosuccinic aciduria, MIM#207900
- OMIM
- 608310
- Clinvar variants
- Variants in ASL
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: asl has been classified as Red List (Low Evidence).
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: asl has been classified as Red List (Low Evidence).
28 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ASL was added gene: ASL was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to PMID: 38693247 Phenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900 Review for gene: ASL was set to RED