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| Adult onset leukodystrophy v1.18 | ASPA | Ivone Leong Classified gene: ASPA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.18 | ASPA |
Ivone Leong Added comment: 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). |
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| Adult onset leukodystrophy v1.18 | ASPA | Ivone Leong Gene: aspa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.17 | ASPA | Ivone Leong Phenotypes for gene: ASPA were changed from to Canavan disease, OMIM:271900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.4 | ASPA |
Zornitza Stark 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 Added comment: Congenital, infantile, and late-onset forms of Canavan disease reported. Sources: Expert list |
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