Cerebral Palsy
Gene: ASPA
ASPA (aspartoacylase)
EnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 15 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic P/LP variants (1 missense and 1 stopgain) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 28 May 2024, 4:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Canavan disease, MIM#271900
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Canavan disease, MIM#271900
- OMIM
- 608034
- Clinvar variants
- Variants in ASPA
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Cerebral Palsy
History Filter Activity
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aspa 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: aspa 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: ASPA was added gene: ASPA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to PMID: 38693247 Phenotypes for gene: ASPA were set to Canavan disease, MIM#271900 Review for gene: ASPA was set to RED