Miscellaneous Metabolic Disorders
Gene: ASPAEnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMSCreated: 26 Jan 2021, 7:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Canavan disease MIM#271900; disorder of amino acid metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Canavan disease MIM#271900
- disorder of amino acid metabolism
- OMIM
- 608034
- Clinvar variants
- Variants in ASPA
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aspa has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aspa has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ASPA was added gene: ASPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 8252036; 8023850 Phenotypes for gene: ASPA were set to Canavan disease MIM#271900; disorder of amino acid metabolism Review for gene: ASPA was set to GREEN gene: ASPA was marked as current diagnostic