Adult onset leukodystrophy
Gene: ASPA
ASPA (aspartoacylase)
EnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Age of onset for Canavan disease is reported range from congenital, infantile to childhood onset. PMID: 2512436 indicated that there are late-onset forms of Canavan disease; however, I cannot access this article. There is enough evidence to support a gene-disease association; however, due to lack of evidence about age of onset being in adulthood, this gene has been given a Red rating on this panel.
This gene is Green on White matter disorders and cerebral calcification - narrow panel (Version 1.181).Created: 22 Jun 2021, 3:23 p.m. | Last Modified: 22 Jun 2021, 3:23 p.m.
Panel Version: 1.18
Zornitza Stark (Australian Genomics)
Congenital, infantile, and late-onset forms of Canavan disease reported.
Sources: Expert listCreated: 21 Jun 2020, 6:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Canavan disease, MIM# 271900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Canavan disease, OMIM:271900
- OMIM
- 608034
- Clinvar variants
- Variants in ASPA
- Penetrance
- None
- Publications
-
- Canavan disease, MIM# 271900
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
22 Jun 2021, Gel status: 1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: aspa has been classified as Red List (Low Evidence).
22 Jun 2021, Gel status: 0
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ASPA were changed from to Canavan disease, OMIM:271900
21 Jun 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications
Zornitza Stark (Australian Genomics)gene: ASPA was added gene: ASPA was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to Canavan disease, MIM# 271900 Review for gene: ASPA was set to GREEN