Adult onset leukodystrophy
Gene: ASPAComment 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
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
Gene: aspa has been classified as Red List (Low Evidence).
Phenotypes for gene: ASPA were changed from to Canavan disease, OMIM:271900
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