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Leukodystrophy - adult onset

Gene: ASPA

Green List (high evidence)
ASPA (aspartoacylase)
EnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital, infantile, and late-onset forms of Canavan disease reported.
Created: 3 May 2020, 11:11 p.m. | Last Modified: 3 May 2020, 11:11 p.m.
Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Canavan disease, MIM# 271900

Created: 3 May 2020, 11:11 p.m.
Last Modified: 3 May 2020, 11:11 p.m.
Panel version: 0.42

History Filter Activity

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aspa has been classified as Green List (High Evidence).

3 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASPA were changed from 25655951; General Leukodystrophy & Mitochondrial Leukoencephalopathy to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Canavan disease, MIM# 271900

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASPA were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ASPA was added gene: ASPA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPA were set to 25655951; General Leukodystrophy & Mitochondrial Leukoencephalopathy