Miscellaneous Metabolic Disorders

Gene: ASPA

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Created: 26 Jan 2021, 7:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Canavan disease MIM#271900; disorder of amino acid metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

26 Jan 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ASPA was added gene: ASPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 8252036; 8023850 Phenotypes for gene: ASPA were set to Canavan disease MIM#271900; disorder of amino acid metabolism Review for gene: ASPA was set to GREEN gene: ASPA was marked as current diagnostic