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Cerebral Palsy

Gene: ASPA

Red List (low evidence)

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual reported with biallelic P/LP variants (1 missense and 1 stopgain) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 28 May 2024, 4:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Canavan disease, MIM#271900

Publications

History Filter Activity

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aspa has been classified as Red List (Low Evidence).

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aspa has been classified as Red List (Low Evidence).

28 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: ASPA was added gene: ASPA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to PMID: 38693247 Phenotypes for gene: ASPA were set to Canavan disease, MIM#271900 Review for gene: ASPA was set to RED