1. Panels
  2. Likely inborn error of metabolism
  3. ASPA
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Likely inborn error of metabolism

Gene: ASPA

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

2 reviews

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: 9.13
Created: 25 Jun 2026, 4:31 p.m.
Last Modified: 25 Jun 2026, 4:31 p.m.
Panel version: 9.13

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 12 variants reported.
Created: 17 Jan 2017, 2:40 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Created: 6 Jan 2017, 1:56 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

History Filter Activity

25 Jun 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: ASPA were changed from Canavan disease to Canavan disease, OMIM:271900

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ASPA. Source London North GLH was added to ASPA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

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

16 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 Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 27604308 Phenotypes for gene: ASPA were set to Canavan disease