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White matter disorders and cerebral calcification - narrow panel

Gene: ASPA

Green List (high evidence)
ASPA (aspartoacylase)
EnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 10 panels

1 review

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotype updated.
Created: 25 Jun 2026, 4:31 p.m. | Last Modified: 25 Jun 2026, 4:31 p.m.
Panel Version: 8.5
Created: 25 Jun 2026, 4:31 p.m.
Last Modified: 25 Jun 2026, 4:31 p.m.
Panel version: 8.5

History Filter Activity

25 Jun 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

8 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ASPA were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951 to General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ASPA was added gene: ASPA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 25655951 Phenotypes for gene: ASPA were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951